1
40
28
-
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Treatment of Symptoms in Children with Q3 Conditions Scoping Review Results
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
URL Address
<a href="http://doi.org/10.1186/s11689-017-9196-7" target="_blank" rel="noreferrer noopener">http://doi.org/10.1186/s11689-017-9196-7</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Autonomic breathing abnormalities in Rett syndrome: Caregiver perspectives in an international database study
Publisher
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Journal of Neurodevelopmental Disorders
Date
A point or period of time associated with an event in the lifecycle of the resource
2017
Subject
The topic of the resource
Genotype; caregiver; Developmental disability; priority journal; data base; school child; autonomic dysfunction; noninvasive ventilation; oxygen; human; article; child; female; male; adult; questionnaire; Rett syndrome; breathing disorder; hyperventilation; mecp2; bloating; breath holding; Breathing disorders; breathing pattern; International database; mutation; onset age; Rare disorder; rebreathing; breathing difficulties; trajectory; characteristics; breath-holding; hyperventilation; abdominal bloating
Creator
An entity primarily responsible for making the resource
MacKay J; Downs J; Wong K; Heyworth J; Epstein A; Leonard H
Description
An account of the resource
Background: Rett syndrome is a severe neurodevelopmental disorder associated with mutations in the MECP2 gene. Irregular breathing patterns and abdominal bloating are prominent but poorly understood features. Our aims were to characterize the abnormal breathing patterns and abdominal bloating, investigate the distribution of these by age and mutation type and examine their impact and management from a caregiver perspective. Methods: We invited previously recruited families from the International Rett Syndrome Study to complete a web-based questionnaire concerning their family member with Rett syndrome aged between 2 and 57 years. We used logistic regression to investigate presence, frequency and impact of breath-holding, hyperventilation, or abdominal bloating by age group and mutation type. Age of onset for both breathing abnormalities was investigated using time-to-onset analysis, and the Kaplan-Meier method was used to estimate the failure function for the study sample. Descriptive statistics were used to characterize the management of irregular breathing. Results: Questionnaires were returned by 413/482 (85.7%) families. Breath-holding was reported for 68.8%, hyperventilation for 46.4% and abdominal bloating for 42.4%. Hyperventilation was more prevalent and frequent in those younger than 7 years of age and abdominal bloating in those aged over 20 years. Onset of breathing irregularities usually occurred during early childhood. Caregivers perceived that daily life was considerably impacted for almost half (44.1%) of those with abdominal bloating and in just over than a third of those with breath-holding (35.8%) or hyperventilation (35.1%). Although perceived impact was broadly comparable between age and mutation groups for breath-holding, hyperventilation and abdominal bloating, girls and women with a p.Arg294*mutation were considered to be more affected by all three conditions. Only 31 individuals had received medically prescribed treatments including 12 different medications, added oxygen, rebreathing apparatus or non-invasive ventilation. Conclusions: Autonomic disturbances are prevalent and burdensome in Rett syndrome. This information may guide the design of inclusion criteria and outcome measures for clinical intervention trials targeting autonomic abnormalities. Further investigation of available treatments is necessary to delineate evidence-based management pathways. Copyright © 2017 The Author(s).
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1186/s11689-017-9196-7" target="_blank" rel="noreferrer noopener">10.1186/s11689-017-9196-7</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
2017
abdominal bloating
Adult
Article
autonomic dysfunction
bloating
breath holding
breath-holding
breathing difficulties
breathing disorder
Breathing disorders
breathing pattern
Caregiver
characteristics
Child
Data Base
Developmental Disability
Downs J
Epstein A
Female
Genotype
Heyworth J
Human
hyperventilation
International database
Journal of Neurodevelopmental Disorders
Leonard H
MacKay J
Male
mecp2
Mutation
Noninvasive Ventilation
onset age
oxygen
Priority Journal
Questionnaire
Rare disorder
rebreathing
Rett syndrome
School Child
Trajectory
Wong K
-
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Treatment of Symptoms in Children with Q3 Conditions Scoping Review Results
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
URL Address
<a href="http://doi.org/10.1097/MPG.0b013e31824b6159" target="_blank" rel="noreferrer noopener">http://doi.org/10.1097/MPG.0b013e31824b6159</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome
Publisher
An entity responsible for making the resource available
Journal of Pediatric Gastroenterology and Nutrition
Date
A point or period of time associated with an event in the lifecycle of the resource
2012
Subject
The topic of the resource
Parents; Age Factors; Male; Young Adult; Surveys and Questionnaires; Child; Humans; Adult; Adolescent; Prevalence; Female; Child Preschool; Infant; Health Surveys; Mutation; Rett Syndrome/complications/genetics; Bone Diseases/complications/epidemiology; Child Nutrition Disorders/epidemiology/etiology/genetics; Gastrointestinal Diseases/epidemiology/etiology/genetics; Growth Disorders/epidemiology/etiology/genetics; Infant Nutrition Disorders/epidemiology/etiology/genetics; Methyl-CpG-Binding Protein 2/genetics; Nutrition Disorders/epidemiology/etiology/genetics; constipation; feeding difficulties; Rett syndrome; trajectory; characteristics; gastrointestinal dysmotility; dysmotility; dysphagia
Creator
An entity primarily responsible for making the resource
Lee H S; Geerts S; Glaze D G; Percy A K; Skinner S A; Motil K J; Lane J B; Neul J L; McNair L; Annese F; Barrish J O; Caeg E
Description
An account of the resource
OBJECTIVE: We conducted a nationwide survey to determine the prevalence of common gastrointestinal and nutritional disorders in Rett syndrome (RTT) based on parental reporting and related the occurrence of these problems to age and methyl-CpG-binding protein 2 (MECP2) gene status. METHODS: We designed a questionnaire that probed symptoms, diagnoses, diagnostic tests, and treatment interventions related to gastrointestinal and nutritional problems in RTT. The International Rett Syndrome Foundation distributed the questionnaire to 1666 family-based members and forwarded their responses for our review. We interrogated the Rare Disease Clinical Research Network database to supplement findings related to medications used to treat gastrointestinal problems in RTT. RESULTS: Parents of 983 female patients with RTT (59%) responded and identified symptoms and diagnoses associated with gastrointestinal dysmotility (92%), chewing and swallowing difficulties (81%), weight deficits or excess (47%), growth deficits (45%), low bone mineral content or fractures (37%), and biliary tract disorders (3%). Height-for-age, weight-for-age, and body mass index z scores decreased significantly with age; height- and weight-, but not body mass index-for-age z scores were significantly lower in female subjects with MECP2 mutations than in those without. Vomiting, nighttime awakening, gastroesophageal reflux, chewing difficulty, and choking with feeding were significantly less likely to occur with increasing age. Short stature, low bone mineral content, fractures, and gastrostomy placement were significantly more likely to occur with increasing age. Chewing difficulty, choking with feeding, and nighttime awakening were significantly less likely to occur, whereas short stature was significantly more likely to occur, in female subjects with MECP2 mutations than in those without. Diagnostic evaluations and therapeutic interventions were used less frequently than the occurrence of symptoms or diagnoses in the RTT cohort. CONCLUSIONS: Gastrointestinal and nutritional problems perceived by parents are prevalent throughout life in girls and women with RTT and may pose a substantial medical burden for their caregivers. Physician awareness of these features of RTT may improve the health and quality of life of individuals affected with this disorder.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1097/MPG.0b013e31824b6159" target="_blank" rel="noreferrer noopener">10.1097/MPG.0b013e31824b6159</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
2012
Adolescent
Adult
Age Factors
Annese F
Barrish J O
Bone Diseases/complications/epidemiology
Caeg E
characteristics
Child
Child Preschool
Child Nutrition Disorders/epidemiology/etiology/genetics
Constipation
dysmotility
Dysphagia
feeding difficulties
Female
Gastrointestinal Diseases/epidemiology/etiology/genetics
gastrointestinal dysmotility
Geerts S
Glaze D G
Growth Disorders/epidemiology/etiology/genetics
Health Surveys
Humans
Infant
Infant Nutrition Disorders/epidemiology/etiology/genetics
Journal Of Pediatric Gastroenterology And Nutrition
Lane J B
Lee H S
Male
McNair L
Methyl-CpG-Binding Protein 2/genetics
Motil K J
Mutation
Neul J L
Nutrition Disorders/epidemiology/etiology/genetics
Parents
Percy A K
Prevalence
Rett syndrome
Rett Syndrome/complications/genetics
Skinner S A
Surveys And Questionnaires
Trajectory
Young Adult
-
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Treatment of Symptoms in Children with Q3 Conditions Scoping Review Results
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
URL Address
<a href="http://doi.org/10.1212/WNL.0b013e318237f649" target="_blank" rel="noreferrer noopener">http://doi.org/10.1212/WNL.0b013e318237f649</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease)
Publisher
An entity responsible for making the resource available
Neurology
Date
A point or period of time associated with an event in the lifecycle of the resource
2011
Subject
The topic of the resource
Cross-Sectional Studies; Disease Progression; Young Adult; Child; Humans; Adult; Prospective Studies; Adolescent; Child Preschool; Regression Analysis; Reproducibility of Results; Analysis of Variance; Neuropsychological Tests; Mutation; Disabled Persons; Genotype; Homozygote; Membrane Glycoproteins; Molecular Chaperones; Neuronal Ceroid-Lipofuscinoses; tone and motor problems; NCL3; tool development; scale development; UBDRS
Creator
An entity primarily responsible for making the resource
Kwon J M; Adams H; Rothberg P G; Augustine E F; Marshall F J; Deblieck E A; Vierhile A; Beck C A; Newhouse N J; Cialone J; Levy E; Ramirez-Montealegre D; Dure L S; Rose K R; Mink J W
Description
An account of the resource
OBJECTIVE: To use the Unified Batten Disease Rating Scale (UBDRS) to measure the rate of decline in physical and functional capability domains in patients with juvenile neuronal ceroid lipofuscinosis (JNCL) or Batten disease, a neurodegenerative lysosomal storage disorder. We have evaluated the UBDRS in subjects with JNCL since 2002; during that time, the scale has been refined to improve reliability and validity. Now that therapies are being proposed to prevent, slow, or reverse the course of JNCL, the UBDRS will play an important role in quantitatively assessing clinical outcomes in research trials. METHODS: We administered the UBDRS to 82 subjects with JNCL genetically confirmed by CLN3 mutational analysis. Forty-four subjects were seen for more than one annual visit. From these data, the rate of physical impairment over time was quantified using multivariate linear regression and repeated-measures analysis. RESULTS: The UBDRS Physical Impairment subscale shows worsening over time that proceeds at a quantifiable linear rate in the years following initial onset of clinical symptoms. This deterioration correlates with functional capability and is not influenced by CLN3 genotype. CONCLUSION: The UBDRS is a reliable and valid instrument that measures clinical progression in JNCL. Our data support the use of the UBDRS to quantify the rate of progression of physical impairment in subjects with JNCL in clinical trials.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1212/WNL.0b013e318237f649" target="_blank" rel="noreferrer noopener">10.1212/WNL.0b013e318237f649</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
2011
Adams H
Adolescent
Adult
Analysis of Variance
Augustine E F
Beck C A
Child
Child Preschool
Cialone J
Cross-sectional Studies
Deblieck E A
Disabled Persons
Disease Progression
Dure L S
Genotype
Homozygote
Humans
Kwon J M
Levy E
Marshall F J
Membrane Glycoproteins
Mink J W
Molecular Chaperones
Mutation
NCL3
Neurology
Neuronal Ceroid-Lipofuscinoses
Neuropsychological Tests
Newhouse N J
Prospective Studies
Ramirez-Montealegre D
Regression Analysis
Reproducibility of Results
Rose K R
Rothberg P G
scale development
tone and motor problems
tool development
UBDRS
Vierhile A
Young Adult
-
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Treatment of Symptoms in Children with Q3 Conditions Scoping Review Results
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
URL Address
<a href="http://doi.org/10.1002/ajmg.a.37502" target="_blank" rel="noreferrer noopener">http://doi.org/10.1002/ajmg.a.37502</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Sleep disturbance in Mowat-Wilson syndrome
Publisher
An entity responsible for making the resource available
American Journal of Medical Genetics Part A
Date
A point or period of time associated with an event in the lifecycle of the resource
2016
Subject
The topic of the resource
Middle Aged; Male; Severity of Illness Index; Surveys and Questionnaires; Child; Humans; Adult; Adolescent; Female; Child Preschool; Australia; Mutation; Facies; Hirschsprung Disease/di [Diagnosis]; Intellectual Disability/di [Diagnosis]; Microcephaly/di [Diagnosis]; Sleep Initiation and Maintenance Disorders/di [Diagnosis]; 0 (Homeodomain Proteins); 0 (Repressor Proteins); 0 (ZEB2 protein human); Behavior Rating Scale; Gene Expression; Hirschsprung Disease/co [Complications]; Hirschsprung Disease/ge [Genetics]; Hirschsprung Disease/pp [Physiopathology]; Homeodomain Proteins/ge [Genetics]; Intellectual Disability/co [Complications]; Intellectual Disability/ge [Genetics]; Intellectual Disability/pp [Physiopathology]; Microcephaly/co [Complications]; Microcephaly/ge [Genetics]; Microcephaly/pp [Physiopathology]; Mowat-Wilson syndrome; Repressor Proteins/ge [Genetics]; Sleep Initiation and Maintenance Disorders/co [Complications]; Sleep Initiation and Maintenance Disorders/ge [Genetics]; Sleep Initiation and Maintenance Disorders/pp [Physiopathology]; sleep disturbance/disorders; Mowat-Wilson syndrome; trajectory; characteristics
Creator
An entity primarily responsible for making the resource
Evans E; Mowat D; Wilson M; Einfeld S
Description
An account of the resource
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome caused by a heterozygous mutation or deletion of the ZEB2 gene. It is characterized by a distinctive facial appearance in association with intellectual disability (ID) and variable other features including agenesis of the corpus callosum, seizures, congenital heart defects, microcephaly, short stature, hypotonia, and Hirschsprung disease. The current study investigated sleep disturbance in people with MWS. In a series of unstructured interviews focused on development and behaviors in MWS, family members frequently reported sleep disturbance, particularly early-morning waking and frequent night waking. The Sleep Disturbance Scale for Children (SDSC) was therefore administered to a sample of 35 individuals with MWS, along with the Developmental Behaviour Checklist (DBC) to measure behavioral and emotional disturbance. A high level of sleep disturbance was found in the MWS sample, with 53% scoring in the borderline range and 44% in the clinical disorder range for at least one subscale of the SDSC. Scores were highest for the Sleep-wake transition disorders subscale, with 91% of participants reaching at least the borderline disorder range. A significant positive association was found between total scores on the SDSC and the DBC Total Behaviour Problem Score. These results suggest that sleep disorders should be screened for in people with MWS, and where appropriate, referrals to sleep specialists made for management of sleep problems.Copyright © 2015 Wiley Periodicals, Inc.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/ajmg.a.37502" target="_blank" rel="noreferrer noopener">10.1002/ajmg.a.37502</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
0 (Homeodomain Proteins)
0 (Repressor Proteins)
0 (ZEB2 protein human)
2016
Adolescent
Adult
American Journal of Medical Genetics Part A
Australia
Behavior Rating Scale
characteristics
Child
Child Preschool
Einfeld S
Evans E
Facies
Female
Gene Expression
Hirschsprung Disease/co [Complications]
Hirschsprung Disease/di [Diagnosis]
Hirschsprung Disease/ge [Genetics]
Hirschsprung Disease/pp [Physiopathology]
Homeodomain Proteins/ge [Genetics]
Humans
Intellectual Disability/co [Complications]
Intellectual Disability/di [Diagnosis]
Intellectual Disability/ge [Genetics]
Intellectual Disability/pp [Physiopathology]
Male
Microcephaly/co [Complications]
Microcephaly/di [Diagnosis]
Microcephaly/ge [Genetics]
Microcephaly/pp [Physiopathology]
Middle Aged
Mowat D
Mowat-Wilson syndrome
Mutation
Repressor Proteins/ge [Genetics]
Severity Of Illness Index
sleep disturbance/disorders
Sleep Initiation and Maintenance Disorders/co [Complications]
Sleep Initiation and Maintenance Disorders/di [Diagnosis]
Sleep Initiation and Maintenance Disorders/ge [Genetics]
Sleep Initiation and Maintenance Disorders/pp [Physiopathology]
Surveys And Questionnaires
Trajectory
Wilson M
-
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Treatment of Symptoms in Children with Q3 Conditions Scoping Review Results
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
URL Address
<a href="http://doi.org/10.1111/j.1469-8749.2010.03636.x" target="_blank" rel="noreferrer noopener">http://doi.org/10.1111/j.1469-8749.2010.03636.x</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Level of purposeful hand function as a marker of clinical severity in Rett syndrome
Publisher
An entity responsible for making the resource available
Developmental Medicine and Child Neurology
Date
A point or period of time associated with an event in the lifecycle of the resource
2010
Subject
The topic of the resource
Cross-Sectional Studies; Age Factors; Severity of Illness Index; Young Adult; Child; Humans; Adult; Adolescent; Female; Child Preschool; Phenotype; Video Recording; Mutation; Registries; Genotype; Motor Activity; Databases as Topic; Walking; Rett Syndrome; Methyl-CpG-Binding Protein 2; Hand; tone and motor problems; trajectory; characteristics
Creator
An entity primarily responsible for making the resource
Downs J; Bebbington A; Jacoby P; Williams A; Ghosh S; Kaufmann W E; Leonard H
Description
An account of the resource
AIM: We investigated relationships between hand function and genotype and aspects of phenotype in Rett syndrome. METHOD: Video assessment in naturalistic settings was supplemented by parent-reported data in a cross-sectional study of 144 females with a mean age of 14 years 10 months (SD 7 y 10 mo; range 2 y-31 y 10 mo), 110 of whom had a mutation of the methyl CpG binding protein 2 (MECP2) gene. Ordinal logistic regression was used to assess relationships between hand function and MECP2 mutation, age, a modified Kerr score, Functional Independence Measure for Children (WeeFIM), ambulation level, and frequency of hand stereotypies. RESULTS: Approximately two-thirds of participants demonstrated purposeful hand function, ranging from simple grasping skills to picking up and manipulating small objects. In participants with a confirmed MECP2 mutation, those with the p.R168X mutation had the poorest hand function on multivariate analysis with C-terminal deletion as the baseline (odds ratio [OR] 0.19; 95% confidence interval [CI] 0.04-0.95), whereas those with the p.R133C or p.R294X mutation had better hand function. Participants aged 19 years or older had lower hand function than those aged less than 8 years (OR 0.36; 95% CI 0.14-0.92). Factors that were associated with better hand function were lower Kerr scores for a 1-point increase in score (OR 0.77; 95% CI 0.69-0.86), higher WeeFIM scores for a 1-point increase in score (OR 1.08; 95% CI 1.04-1.12), and greater ambulation than those completely dependent on carers for mobility (OR 22.64; 95% CI 7.02-73.08). The results for participants with a confirmed pathogenic mutation were similar to results obtained when participants without a mutation were also included. INTERPRETATION: Our novel assessment of hand function in Rett syndrome correlated well with known profiles of common MECP2 mutations and overall clinical severity. This promising assessment could measure clinical responses to therapy.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1111/j.1469-8749.2010.03636.x" target="_blank" rel="noreferrer noopener">10.1111/j.1469-8749.2010.03636.x</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
2010
Adolescent
Adult
Age Factors
Bebbington A
characteristics
Child
Child Preschool
Cross-sectional Studies
Databases as Topic
Developmental Medicine and Child Neurology
Downs J
Female
Genotype
Ghosh S
Hand
Humans
Jacoby P
Kaufmann W E
Leonard H
Methyl-CpG-Binding Protein 2
Motor Activity
Mutation
Phenotype
Registries
Rett syndrome
Severity Of Illness Index
tone and motor problems
Trajectory
Video Recording
Walking
Williams A
Young Adult
-
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Treatment of Symptoms in Children with Q3 Conditions Scoping Review Results
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
URL Address
<a href="http://doi.org/10.1002/ajmg.a.37784" target="_blank" rel="noreferrer noopener">http://doi.org/10.1002/ajmg.a.37784</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype
Publisher
An entity responsible for making the resource available
American Journal of Medical Genetics Part A
Date
A point or period of time associated with an event in the lifecycle of the resource
2016
Subject
The topic of the resource
Middle Aged; Infant Newborn; Severity of Illness Index; Epilepsy/ge [Genetics]; Young Adult; Child; Humans; Adult; Adolescent; Child Preschool; Infant; Mutation; Epilepsy/di [Diagnosis]; Sleep Wake Disorders/di [Diagnosis]; Phenotype; Genetic Association Studies; Genotype; Rett Syndrome/ge [Genetics]; Rett Syndrome/pp [Physiopathology]; Sleep Wake Disorders/ge [Genetics]; 0 (Methyl-CpG-Binding Protein 2); Methyl-CpG-Binding Protein 2/ge [Genetics]; Rett Syndrome/di [Diagnosis]; sleep disturbance/disorders; Rett syndrome; trajectory; characteristics
Creator
An entity primarily responsible for making the resource
Boban S; Wong K; Epstein A; Anderson B; Murphy N; Downs J; Leonard H
Description
An account of the resource
Rett syndrome is a rare but severe neurological disorder associated with a mutation in the methyl CpG binding protein 2 (MECP2) gene. Sleep problems and epilepsy are two of many comorbidities associated with this disorder. This study investigated the prevalence and determinants of sleep problems in Rett syndrome using an international sample. Families with a child with a confirmed Rett syndrome diagnosis and a MECP2 mutation registered in the International Rett Syndrome Phenotype Database (InterRett) were invited to participate. Questionnaires were returned by 364/461 (78.9%) either in web-based or paper format. Families completed the Sleep Disturbance Scale for Children and provided information on the presence, nature, and frequency of their child's sleep problems. Multivariate multinomial regression was used to investigate the relationships between selected sleep problems, age group, and genotype and linear regression for the relationships between sleep disturbance scales and a range of covariates. Night waking was the most prevalent sleep problem affecting over 80% with nearly half (48.3%) currently waking often at night. Initiating and maintaining sleep was most disturbed for younger children and those with a p.Arg294* mutation. Severe seizure activity was associated with poor sleep after adjusting for age group, mutation type, and mobility. We were surprised to find associations between the p.Arg294* mutation and some sleep disturbances given that other aspects of its phenotype are milder. These findings highlight the complexities of aberrant MECP2 function in Rett syndrome and explain some of the variation in manifestation of sleep disturbances. © 2016 Wiley Periodicals, Inc.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/ajmg.a.37784" target="_blank" rel="noreferrer noopener">10.1002/ajmg.a.37784</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
0 (Methyl-CpG-Binding Protein 2)
2016
Adolescent
Adult
American Journal of Medical Genetics Part A
Anderson B
Boban S
characteristics
Child
Child Preschool
Downs J
Epilepsy/di [diagnosis]
Epilepsy/ge [Genetics]
Epstein A
Genetic Association Studies
Genotype
Humans
Infant
Infant Newborn
Leonard H
Methyl-CpG-Binding Protein 2/ge [Genetics]
Middle Aged
Murphy N
Mutation
Phenotype
Rett syndrome
Rett Syndrome/di [Diagnosis]
Rett Syndrome/ge [Genetics]
Rett Syndrome/pp [Physiopathology]
Severity Of Illness Index
sleep disturbance/disorders
Sleep Wake Disorders/di [Diagnosis]
Sleep Wake Disorders/ge [Genetics]
Trajectory
Wong K
Young Adult
-
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
August 2018 List
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
August 2018 List
URL Address
<a href="http://doi.org/10.1542/peds.2017-3417" target="_blank" rel="noreferrer noopener">http://doi.org/10.1542/peds.2017-3417</a>
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Title
A name given to the resource
Benefits of Early Referral to Pediatric Palliative Care for a Child With a Rare Disease
Publisher
An entity responsible for making the resource available
Pediatrics
Date
A point or period of time associated with an event in the lifecycle of the resource
2018
Subject
The topic of the resource
Palliative Care; Decision Making; Intensive Care Units; Referral and Consultation; Mutation; Child; Male; Pain Management; Intellectual Disability; Health Education; Parental Attitudes; Pediatric; Pediatric Care; Connective Tissue Diseases Diagnosis; Connective Tissue Diseases Familial and Genetic In Infancy and Childhood; Connective Tissue Diseases Symptoms; Connective Tissue Diseases Therapy In Infancy and Childhood; Dyspnea Drug Therapy; Face Pathology; Family Education; Fibrosis; Morphine Therapeutic Use; Clinical; Muscle; Skeletal Abnormalities
Creator
An entity primarily responsible for making the resource
Vadeboncoeur C; McHardy M
Description
An account of the resource
The article outlines the benefits of palliative care supporting the child and family with attention to individualized symptom management, improved communication, and support making difficult decisions. Topics mentioned include the research program Care4Rare at the Children's Hospital of Eastern Ontario, the importance of finding a name or a genetic difference or a cause for future family planning, and the role of morphine for symptom management.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1542/peds.2017-3417" target="_blank" rel="noreferrer noopener">10.1542/peds.2017-3417</a>
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Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
2018
August 2018 List
Child
Clinical
Connective Tissue Diseases Diagnosis
Connective Tissue Diseases Familial and Genetic In Infancy and Childhood
Connective Tissue Diseases Symptoms
Connective Tissue Diseases Therapy In Infancy and Childhood
Decision Making
Dyspnea Drug Therapy
Face Pathology
Family Education
Fibrosis
Health Education
Intellectual Disability
Intensive Care Units
Male
McHardy M
Morphine Therapeutic Use
Muscle
Mutation
Pain Management
Palliative Care
Parental Attitudes
Pediatric
Pediatric Care
Pediatrics
Referral And Consultation
Skeletal Abnormalities
Vadeboncoeur C
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1007/s10048-014-0411-3" target="_blank" rel="noreferrer">http://doi.org/10.1007/s10048-014-0411-3</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset
Publisher
An entity responsible for making the resource available
Neurogenetics
Date
A point or period of time associated with an event in the lifecycle of the resource
2014
Subject
The topic of the resource
Female; Humans; infant; Mutation; Age Factors; Brain; Neurodegenerative Diseases; Newborn; Cytokines; Neoplasm Proteins; RNA-Binding Proteins; White Matter
Creator
An entity primarily responsible for making the resource
Armstrong L; Biancheri R; Shyr C; Rossi A; Sinclair G; Ross CJ; Tarailo-Graovac M; Wasserman WW; van Karnebeek CD
Description
An account of the resource
We report the second family with AIMP1 deficiency, due to a homozygous truncating AIMP1 (g.107248613 C > T) mutation. This female showed early-onset developmental arrest, intractable epileptic spasms, microcephaly, and a rapid clinical course leading to premature death, associated with cerebral atrophy and myelin deficiency on brain MRI. Clinical and neuroimaging findings are consistent with a primary neuronal degenerative disorder, rather than with the previously reported Perlizaeus-Merzbacher-like phenotype. Given its critical role in neurofilament assembly 16, impaired myelin formation is due to neuronal/axonal dysfunction. We propose that AIMP1 deficiency be added to the differential diagnosis of infantile onset, progressive neurodegenerative disease.
2014-08
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1007/s10048-014-0411-3" target="_blank" rel="noreferrer">10.1007/s10048-014-0411-3</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2014
Age Factors
Armstrong L
Backlog
Biancheri R
Brain
Cytokines
Female
Humans
Infant
Journal Article
Mutation
Neoplasm Proteins
Neurodegenerative Diseases
Neurogenetics
Newborn
RNA-Binding Proteins
Ross CJ
Rossi A
Shyr C
Sinclair G
Tarailo-Graovac M
van Karnebeek CD
Wasserman WW
White Matter
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1016/j.ejpn.2007.01.004" target="_blank" rel="noreferrer">http://doi.org/10.1016/j.ejpn.2007.01.004</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation
Publisher
An entity responsible for making the resource available
European Journal Of Paediatric Neurology
Date
A point or period of time associated with an event in the lifecycle of the resource
2007
Subject
The topic of the resource
Child; Female; Humans; Adult; Mutation; adolescent; Q3 Literature Search; DNA Mutational Analysis; Pedigree; DNA; Mitochondrial/genetics; MERRF Syndrome/complications/genetics/physiopathology; Muscular Diseases/etiology/genetics/physiopathology; Pain/etiology/genetics/physiopathology; Polymerase Chain Reaction
Creator
An entity primarily responsible for making the resource
van de Glind G; de Vries M; Rodenburg R; Hol F; Smeitink JA; Morava E
Description
An account of the resource
The characteristic clinical presentation, especially the appearance of muscle symptoms, is quite unique in children carrying the mtA8344G mutation. The diagnosis of MERRF syndrome is seldom made in the pediatric age. Fatigue is a common finding in children of pubertal age. Fatigue in combination with recurrent resting muscle pain occurs frequently in the initial phase of various hereditary muscle disorders and in several autoimmune, endocrine and metabolic syndromes. In the absence of obvious biochemical/metabolic abnormalities and in the lack of neurological symptoms the complaints are frequently labelled as fibromyalgia or chronic fatigue syndrome. In patients with behavioural or psychiatric abnormalities one might even start to question the organic etiology of the complaints. We describe a family carrying the classic MTTK mutation with a variable degree of heteroplasmy, presenting in childhood as isolated recurrent muscle pain as the first symptom of the disease.
2007
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1016/j.ejpn.2007.01.004" target="_blank" rel="noreferrer">10.1016/j.ejpn.2007.01.004</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2007
Adolescent
Adult
Backlog
Child
de Vries M
DNA
DNA Mutational Analysis
European Journal of Paediatric Neurology
Female
Hol F
Humans
Journal Article
MERRF Syndrome/complications/genetics/physiopathology
Mitochondrial/genetics
Morava E
Muscular Diseases/etiology/genetics/physiopathology
Mutation
Pain/etiology/genetics/physiopathology
Pedigree
Polymerase Chain Reaction
Q3 Scoping Review Results
Rodenburg R
Smeitink JA
van de Glind G
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1016/j.ymgme.2007.09.011" target="_blank" rel="noreferrer">http://doi.org/10.1016/j.ymgme.2007.09.011</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands
Publisher
An entity responsible for making the resource available
Molecular Genetics And Metabolism
Date
A point or period of time associated with an event in the lifecycle of the resource
2008
Subject
The topic of the resource
Child; Female; Humans; Male; Adult; Middle Aged; Mutation; Netherlands; Phenotype; adolescent; Preschool; infant; Models; Q3 Literature Search; Age of Onset; DNA Mutational Analysis; Acetyltransferases/chemistry/deficiency/genetics; DNA/genetics; Genotype; Missense; Molecular; Mucopolysaccharidosis III/classification/enzymology/genetics/physiopathology
Creator
An entity primarily responsible for making the resource
Ruijter GJ; Valstar MJ; van de Kamp JM; van der Helm RM; Durand S; van Diggelen OP; Wevers RA; Poorthuis BJ; Pshezhetsky AV; Wijburg FA
Description
An account of the resource
Mucopolysaccharidosis IIIC (MPS IIIC, Sanfilippo C syndrome) is a lysosomal storage disorder caused by deficiency of the lysosomal enzyme acetyl-CoA:alpha-glucosaminide N-acetyltransferase (HGSNAT). We performed a clinical study on 29 Dutch MPS IIIC patients and determined causative mutations in the recently identified HGSNAT gene. Psychomotor development was reported to be normal in all patients during the first year of life. First clinical signs were usually noted between 1 and 6 years (mean 3.5 years), and consisted of delayed psychomotor development and behavioral problems. Other symptoms included sleeping and hearing problems, recurrent infections, diarrhoea and epilepsy. Two sisters had attenuated disease and did not have symptoms until the third decade. Mean age of death was 34 years (range 25-48). Molecular analysis revealed mutations in both alleles for all patients except one. Altogether 14 different mutations were found: two splice site mutations, one frame shift mutation due to an insertion, three nonsense mutations and eight missense mutations. Two mutations, p.R344C and p.S518F, were frequent among probands of Dutch origin representing 22.0% and 29.3%, respectively, of the mutant alleles. This study demonstrates that MPS IIIC has a milder course than previously reported and that both severity and clinical course are highly variable even between sibs, complicating prediction of the clinical phenotype for individual patients. A clear phenotype-genotype correlation could not be established, except that the mutations p.G262R and p.S539C were only found in two sisters with late-onset disease and presumably convey a mild phenotype.
2008
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1016/j.ymgme.2007.09.011" target="_blank" rel="noreferrer">10.1016/j.ymgme.2007.09.011</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2008
Acetyltransferases/chemistry/deficiency/genetics
Adolescent
Adult
Age of Onset
Backlog
Child
DNA Mutational Analysis
DNA/genetics
Durand S
Female
Genotype
Humans
Infant
Journal Article
Male
Middle Aged
Missense
Models
Molecular
Molecular Genetics and Metabolism
Mucopolysaccharidosis III/classification/enzymology/genetics/physiopathology
Mutation
Netherlands
Phenotype
Poorthuis BJ
Preschool
Pshezhetsky AV
Q3 Scoping Review Results
Ruijter GJ
Valstar MJ
van de Kamp JM
van der Helm RM
van Diggelen OP
Wevers RA
Wijburg FA
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1111/j.1399-0004.2007.00790.x" target="_blank" rel="noreferrer">http://doi.org/10.1111/j.1399-0004.2007.00790.x</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations
Publisher
An entity responsible for making the resource available
Clinical Genetics
Date
A point or period of time associated with an event in the lifecycle of the resource
2007
Subject
The topic of the resource
Female; Humans; Male; Mutation; DNA Mutational Analysis; Pedigree; Chromosomes; Human; Genetics; Population; Chromosome Mapping; Haplotypes; Pair 2/genetics; Codon; Congenital/genetics; Founder Effect; Frameshift Mutation; Nonsense; Pain Insensitivity; Sequence Deletion; Sodium Channels/genetics
Creator
An entity primarily responsible for making the resource
Goldberg YP; MacFarlane J; MacDonald ML; Thompson J; Dube MP; Mattice M; Fraser R; Young C; Hossain S; Pape T; Payne B; Radomski C; Donaldson G; Ives E; Cox J; Younghusband HB; Green R; Duff A; Boltshauser E; Grinspan GA; Dimon JH; Sibley BG; Andria G; Toscano E; Kerdraon J; Bowsher D; Pimstone SN; Samuels ME; Sherrington R; Hayden MR
Description
An account of the resource
Congenital indifference to pain (CIP) is a rare condition in which patients have severely impaired pain perception, but are otherwise essentially normal. We identified and collected DNA from individuals from nine families of seven different nationalities in which the affected individuals meet the diagnostic criteria for CIP. Using homozygosity mapping and haplotype sharing methods, we narrowed the CIP locus to chromosome 2q24-q31, a region known to contain a cluster of voltage-gated sodium channel genes. From these prioritized candidate sodium channels, we identified 10 mutations in the SCN9A gene encoding the sodium channel protein Nav1.7. The mutations completely co-segregated with the disease phenotype, and nine of these SCN9A mutations resulted in truncation and loss-of-function of the Nav1.7 channel. These genetic data further support the evidence that Nav1.7 plays an essential role in mediating pain in humans, and that SCN9A mutations identified in multiple different populations underlie CIP.
2007
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1111/j.1399-0004.2007.00790.x" target="_blank" rel="noreferrer">10.1111/j.1399-0004.2007.00790.x</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2007
Andria G
Backlog
Boltshauser E
Bowsher D
Chromosome Mapping
Chromosomes
Clinical Genetics
Codon
Congenital/genetics
Cox J
Dimon JH
DNA Mutational Analysis
Donaldson G
Dube MP
Duff A
Female
Founder Effect
Frameshift Mutation
Fraser R
Genetics
Goldberg YP
Green R
Grinspan GA
Haplotypes
Hayden MR
Hossain S
Human
Humans
Ives E
Journal Article
Kerdraon J
MacDonald ML
MacFarlane J
Male
Mattice M
Mutation
Nonsense
Pain Insensitivity
Pair 2/genetics
Pape T
Payne B
Pedigree
Pimstone SN
Population
Radomski C
Samuels ME
Sequence Deletion
Sherrington R
Sibley BG
Sodium Channels/genetics
Thompson J
Toscano E
Young C
Younghusband HB
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1111/j.1600-0420.2007.01121.x" target="_blank" rel="noreferrer">http://doi.org/10.1111/j.1600-0420.2007.01121.x</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Ocular characteristics in 10 children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a cross-sectional study with long-term follow-up
Publisher
An entity responsible for making the resource available
Acta Ophthalmologica
Date
A point or period of time associated with an event in the lifecycle of the resource
2008
Subject
The topic of the resource
Child; Cross-Sectional Studies; Female; Humans; Male; Follow-Up Studies; Disease Progression; Mutation; Severity of Illness Index; Preschool; infant; Q3 Literature Search; Atrophy; 3-Hydroxyacyl CoA Dehydrogenases/deficiency; Metabolism; Visual Acuity; Choroid Diseases/etiology/pathology; Electroretinography; Eye Diseases/diagnosis/etiology/physiopathology; Hypoglycemia/complications; Inborn Errors/complications/genetics; Myopia/etiology/physiopathology; Retinal Diseases/etiology/pathology; Vision Disorders/etiology/physiopathology
Creator
An entity primarily responsible for making the resource
Fahnehjelm KT; Holmstrom G; Ying L; Haglind CB; Nordenstrom A; Halldin M; Alm J; Nemeth A; von Dobeln U
Description
An account of the resource
PURPOSE: To present long-term ocular complications and electroretinographic (ERG) findings in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency - a life-threatening metabolic disease - and the relation to age at diagnosis, treatment and other clinical parameters. METHODS: Ten children with LCHAD deficiency underwent repeated ophthalmological evaluations including ERG. RESULTS: All 10 children developed chorioretinal pathology. Regardless of age at diagnosis, initiation of treatment and age at examination, inter-individual differences were present. Profound chorioretinal atrophy, severe visual impairment and progressive myopia had developed in two teenagers. Milder chorioretinopathy with or without subnormal visual acuity was present in all other children. ERG was pathological in seven children. The chorioretinopathy often started in the peripapillary or perimacular areas. In one patient, unilateral visual impairment was associated with fibrosis. CONCLUSION: Early diagnosis and adequate therapy might delay but not prevent the progression of retinal complications. Late diagnosis with severe symptoms at diagnosis, neonatal hypoglycaemia and frequent decompensations may increase the progression rate of the chorioretinopathy. LCHAD deficiency, a potentially lethal disease, is sometimes difficult to diagnose. Unusual chorioretinal findings should alert the ophthalmologist to the long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, especially if there is a history of neonatal hypoglycaemia or failure to thrive.
2008
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1111/j.1600-0420.2007.01121.x" target="_blank" rel="noreferrer">10.1111/j.1600-0420.2007.01121.x</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2008
3-Hydroxyacyl CoA Dehydrogenases/deficiency
Acta Ophthalmologica
Alm J
Atrophy
Backlog
Child
Choroid Diseases/etiology/pathology
Cross-sectional Studies
Disease Progression
Electroretinography
Eye Diseases/diagnosis/etiology/physiopathology
Fahnehjelm KT
Female
Follow-up Studies
Haglind CB
Halldin M
Holmstrom G
Humans
Hypoglycemia/complications
Inborn Errors/complications/genetics
Infant
Journal Article
Male
Metabolism
Mutation
Myopia/etiology/physiopathology
Nemeth A
Nordenstrom A
Preschool
Q3 Scoping Review Results
Retinal Diseases/etiology/pathology
Severity Of Illness Index
Vision Disorders/etiology/physiopathology
Visual Acuity
von Dobeln U
Ying L
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1212/01.wnl.0000314731.65875.5c" target="_blank" rel="noreferrer">http://doi.org/10.1212/01.wnl.0000314731.65875.5c</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Double homozygosity for mutations of AGL and SCN9A mimicking neurohepatopathy syndrome
Publisher
An entity responsible for making the resource available
Neurology
Date
A point or period of time associated with an event in the lifecycle of the resource
2008
Subject
The topic of the resource
Child; Female; Humans; Male; Mutation; Syndrome; infant; Pedigree; Homozygote; Pain Insensitivity; Sodium Channels/genetics; Congenital/diagnosis/genetics; Liver Diseases/genetics/physiopathology
Creator
An entity primarily responsible for making the resource
Ebermann I; Elsayed SM; Abdel-Ghaffar TY; Nurnberg G; Nurnberg P; Elsobky E; Bolz HJ
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1212/01.wnl.0000314731.65875.5c" target="_blank" rel="noreferrer">10.1212/01.wnl.0000314731.65875.5c</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
Description
An account of the resource
2008
2008
Abdel-Ghaffar TY
Backlog
Bolz HJ
Child
Congenital/diagnosis/genetics
Ebermann I
Elsayed SM
Elsobky E
Female
Homozygote
Humans
Infant
Journal Article
Liver Diseases/genetics/physiopathology
Male
Mutation
Neurology
Nurnberg G
Nurnberg P
Pain Insensitivity
Pedigree
Sodium Channels/genetics
Syndrome
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1007/s10545-005-0533-8" target="_blank" rel="noreferrer">http://doi.org/10.1007/s10545-005-0533-8</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency
Publisher
An entity responsible for making the resource available
Journal Of Inherited Metabolic Disease
Date
A point or period of time associated with an event in the lifecycle of the resource
2005
Subject
The topic of the resource
Humans; Male; Prognosis; Mutation; Longitudinal Studies; Phenotype; Fibroblasts/metabolism; Lipid Metabolism; Multienzyme Complexes/deficiency; Mitochondria/pathology; Acyl-CoA Dehydrogenase; Cardiomyopathies/diagnosis/genetics; Carnitine/analogs & derivatives/metabolism; Exons; Fatty Acids/metabolism; Homozygote; Inborn Errors/diagnosis/genetics; Long-Chain/deficiency; Polyneuropathies/diagnosis/genetics; Rhabdomyolysis/diagnosis/genetics
Creator
An entity primarily responsible for making the resource
Olpin SE; Clark S; Andresen BS; Bischoff C; Olsen RK; Gregersen N; Chakrapani A; Downing M; Manning NJ; Sharrard M; Bonham JR; Muntoni F; Turnbull DN; Pourfarzam M
Description
An account of the resource
General mitochondrial trifunctional protein (TFP) deficiency leads to a wide clinical spectrum of disease ranging from severe neonatal/infantile cardiomyopathy and early death to mild chronic progressive sensorimotor poly-neuropathy with episodic rhabdomyolysis. Isolated long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency resulting from the common Glu510Gln mutation usually gives rise to a moderately severe phenotype with multiorgan involvement with high morbidity and mortality. However, isolated LCHAD deficiency can also be consistent with long-term survival in patients identified and treated from an early age. We present biochemical, clinical and mutation data in 9 patients spanning the full spectrum of disease. Fibroblast acylcarnitine profiling shows good correlation with clinical phenotype using the ratio C18(OH)/(C14(OH)+C12(OH)). This ratio shows a gradation of values, from high in four patients with severe neonatal disease (2.5+/-0.8), to low in two neuromyopathic patients (0.35, 0.2). Fibroblast fatty acid oxidation flux assays also show correlation with the patient phenotype, when expressed either as percentage residual activity with palmitate or as a ratio of percentage activity of myristate/oleate (M/O ratio). Fibroblasts from four patients with severe neonatal disease gave an M/O ratio of 4.0+/-0.6 compared to 1.97 and 1.62 in two neuromyopathic patients. Specific enzyme assay of LCHAD and long-chain 3-ketothiolase activity in patient cells shows lack of correlation with phenotype. These results show that measurements in intact cells, which allow all determinative and modifying cellular factors to be present, better reflect patient phenotype. Mutation analysis reveals a number of alpha- and beta-subunit mutations. Peripheral sensorimotor polyneuropathy, often as the initial major presenting feature but usually later accompanied by episodic rhabdomyolysis, is a manifestation of mild TFP protein deficiency. The mild clinical presentation and relative difficulty in diagnosis suggest that this form of TFP is probably underdiagnosed.
2005
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1007/s10545-005-0533-8" target="_blank" rel="noreferrer">10.1007/s10545-005-0533-8</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2005
Acyl-CoA Dehydrogenase
Andresen BS
Backlog
Bischoff C
Bonham JR
Cardiomyopathies/diagnosis/genetics
Carnitine/analogs & derivatives/metabolism
Chakrapani A
Clark S
Downing M
Exons
Fatty Acids/metabolism
Fibroblasts/metabolism
Gregersen N
Homozygote
Humans
Inborn Errors/diagnosis/genetics
Journal Article
Journal Of Inherited Metabolic Disease
Lipid Metabolism
Long-Chain/deficiency
Longitudinal Studies
Male
Manning NJ
Mitochondria/pathology
Multienzyme Complexes/deficiency
Muntoni F
Mutation
Olpin SE
Olsen RK
Phenotype
Polyneuropathies/diagnosis/genetics
Pourfarzam M
Prognosis
Rhabdomyolysis/diagnosis/genetics
Sharrard M
Turnbull DN
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1203/01.pdr.0000190572.68191.13" target="_blank" rel="noreferrer">http://doi.org/10.1203/01.pdr.0000190572.68191.13</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency
Publisher
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Pediatric Research
Date
A point or period of time associated with an event in the lifecycle of the resource
2006
Subject
The topic of the resource
Child; Female; Humans; infant; Male; Prognosis; Mutation; adolescent; Preschool; infant; Q3 Literature Search; Newborn; DNA; Mitochondrial/genetics; Proteins/genetics; Sequence Deletion; Membrane Proteins; Mitochondrial Proteins; Carrier Proteins; Cytochrome-c Oxidase Deficiency/diagnosis/genetics/mortality; Czech Republic; Poland; Slovakia
Creator
An entity primarily responsible for making the resource
Bohm M; Pronicka E; Karczmarewicz E; Pronicki M; Piekutowska-Abramczuk D; Sykut-Cegielska J; Mierzewska H; Hansikova H; Vesela K; Tesarova M; Houstkova H; Houstek J; Zeman J
Description
An account of the resource
A retrospective, multicenter study of 180 children with cytochrome c oxidase (COX) deficiency analyzed the clinical features, prognosis, and molecular bases of the COX deficiency. Clinical symptoms including failure to thrive, encephalopathy, hypotony, Leigh syndrome, cardiac involvement, and hepatopathy appeared in most patients early after birth or in early childhood. Two thirds of all children died. Biochemical examination revealed an isolated COX deficiency in 101 children and COX deficiency combined with disturbances of other respiratory chain complexes in 79 children. Blood and cerebrospinal fluid lactate increased in 85% and 81% of examined cases, respectively. Pathogenic mutations in mitochondrial or nuclear DNA were established in 75 patients. Mutations in surfeit locus protein 1 gene (SURF1) were found in 47 children with Leigh syndrome; 2bp deletion 845-846delCT was found in 89% of independent alleles. Mutations in a mitochondrial copper-binding protein (SCO2) gene were found in nine children with encephalomyopathy and/or cardiomyopathy; all of them were homozygotes or heterozygotes for 1541G>A mutation. Different mitochondrial DNA (mtDNA) deletion or depletion were found in nine children, mtDNA mutation 3243A>G in six, mtDNA mutation 8363G>A in two children with Leigh syndrome and mtDNA mutations 8344A>G, and 9205-9206delTA in one child each. COX deficiency represents a heterogeneous group of diseases with unfavorable prognosis. Marked prevalence of two nuclear DNA mutations (845-846delCT in the SURF1 gene and 1541G>A in the SCO2 gene) associated with COX deficiency in a Slavonic population suggests the existence of regional differences in the genetic basis of COX deficiency.
2006
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1203/01.pdr.0000190572.68191.13" target="_blank" rel="noreferrer">10.1203/01.pdr.0000190572.68191.13</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2006
Adolescent
Backlog
Bohm M
Carrier Proteins
Child
Cytochrome-c Oxidase Deficiency/diagnosis/genetics/mortality
Czech Republic
DNA
Female
Hansikova H
Houstek J
Houstkova H
Humans
Infant
Journal Article
Karczmarewicz E
Male
Membrane Proteins
Mierzewska H
Mitochondrial Proteins
Mitochondrial/genetics
Mutation
Newborn
Pediatric Research
Piekutowska-Abramczuk D
Poland
Preschool
Prognosis
Pronicka E
Pronicki M
Proteins/genetics
Q3 Scoping Review Results
Sequence Deletion
Slovakia
Sykut-Cegielska J
Tesarova M
Vesela K
Zeman J
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1002/ajmg.10660" target="_blank" rel="noreferrer">http://doi.org/10.1002/ajmg.10660</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations
Publisher
An entity responsible for making the resource available
American Journal Of Medical Genetics
Date
A point or period of time associated with an event in the lifecycle of the resource
2002
Subject
The topic of the resource
Mutation; Severity of Illness Index; Longitudinal Studies; DNA Mutational Analysis; DNA/chemistry/genetics; Endopeptidases; Neuronal Ceroid-Lipofuscinoses/genetics/pathology/physiopathology; Peptide Hydrolases/genetics/metabolism; Psychomotor Performance/physiology; Seizures/physiopathology; Vision/physiology
Creator
An entity primarily responsible for making the resource
Steinfeld R; Heim P; von Gregory H; Meyer K; Ullrich K; Goebel HH; Kohlschutter A
Description
An account of the resource
We examined 26 individuals with clinical and electron microscopic signs of late infantile neuronal ceroid lipofuscinosis (LINCL). In 22 cases, we found both pathogenic alleles. Sixteen patients exclusively carried either one or a combination of the two common mutations R208X and IVS5-1G > C. In the remaining cases, four missense mutations could be detected, of which R127Q, N286S, and T353P represent novel, previously not described alleles. A clinical performance score was developed by rating motor, visual, and verbal functions and the incidence of cerebral seizures in 3-month intervals during the course of the disease. A Total Disability Score was derived by summing up the single scores for motor, visual, and verbal functions. The 16 individuals with the two common mutations were grouped together (referred to as standard patients), and the 5th, 50th, and 95th centiles were calculated and graphically depicted over time. The scores for motor function and language ability dropped earliest and progressed very similarly in the standard patients. The performance curves of two children with the N286S mutation slightly diverged from the 95th centile. However, the performance curves of one patient with atypical LINCL carrying the R127Q mutation fell far beyond the 95th centile. The presented performance rating clearly and quantitatively delineates the disease course of the LINCL patients and hence offers a useful tool for clinical evaluation of future therapeutic interventions. In addition, the described performance score system can be applied to other types of neuronal ceroid lipofuscinoses and could be adapted to various other neurodegenerative diseases of childhood.
2002
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/ajmg.10660" target="_blank" rel="noreferrer">10.1002/ajmg.10660</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2002
American Journal Of Medical Genetics
Backlog
DNA Mutational Analysis
DNA/chemistry/genetics
Endopeptidases
Goebel HH
Heim P
Journal Article
Kohlschutter A
Longitudinal Studies
Meyer K
Mutation
Neuronal Ceroid-Lipofuscinoses/genetics/pathology/physiopathology
Peptide Hydrolases/genetics/metabolism
Psychomotor Performance/physiology
Seizures/physiopathology
Severity Of Illness Index
Steinfeld R
Ullrich K
Vision/physiology
von Gregory H
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1002/ajmg.a.20664" target="_blank" rel="noreferrer">http://doi.org/10.1002/ajmg.a.20664</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients
Publisher
An entity responsible for making the resource available
American Journal Of Medical Genetics.Part A
Date
A point or period of time associated with an event in the lifecycle of the resource
2004
Subject
The topic of the resource
Child; Female; Humans; Male; Survival Rate; Cohort Studies; Adult; Follow-Up Studies; Mutation; Time Factors; Phenotype; adolescent; Preschool; infant; Q3 Literature Search; Developmental Disabilities/pathology; Eye Diseases/pathology; Face/abnormalities; Growth Disorders/pathology; Kidney/pathology; Liver/pathology; Membrane Proteins/genetics; Peroxisomal Disorders/genetics/mortality/pathology; Seizures/pathology; Spleen/pathology
Creator
An entity primarily responsible for making the resource
Poll-The BT; Gootjes J; Duran M; de Klerk JB; Wenniger-Prick LJ; Admiraal RJ; Waterham HR; Wanders RJ; Barth PG
Description
An account of the resource
The peroxisome biogenesis disorders (PBDs) with generalized peroxisomal dysfunction include Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD). There is clinical, biochemical, and genetic overlap among the three phenotypes, also known as Zellweger spectrum disorders. Clinical distinctions between the phenotypes are not sharply defined. Only limited sources are available to serve as a background for prognosis in PBD, especially in case of prolonged survival. We delineated the natural history of 31 PBD patients (age 1.2-24 years) through systematic clinical and biochemical investigations. We excluded classical ZS from our study, and included all patients with a biochemically confirmed generalized peroxisomal disorder over 1 year of age, irrespective of the previously diagnosed phenotype. The initial clinical suspicion, age at diagnosis, growth, development, neurological symptoms, organ involvements, and survival are summarized. Common to all patients were cognitive and motor dysfunction, retinopathy, sensorineural hearing impairment, and hepatic involvement. Many patients showed postnatal growth failure, 10 patients displayed hyperoxaluria of whom 4 had renal stones. Motor skills ranged from sitting with support to normal gait. Speech development ranged from non-verbal expression to grammatical speech and comprehensive reading. The neurodevelopmental course was variable with stable course, rapid decline with leukodystrophy, spinocerebellar syndrome, and slow decline over a wide range of faculties as outcome profiles. At the molecular level, 21 patients had mutations in the PEX1 gene. The two most common PEX1 mutations were the G843D (c.2528G-->A) missense and the c.2097insT frameshift mutation. Patients having the G843D/G843D or the G843D/c.2097insT genotypes were compared. Patients homozygous for G843D generally had a better developmental outcome. However, one patient who was homozygous for the "mild" G843D mutation had an early lethal disease, whereas two other patients had a phenotype overlapping with the G843D/c.2097insT group. This indicates that next to the PEX1 genotype other yet unknown factors determine the ultimate phenotype.
2004
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/ajmg.a.20664" target="_blank" rel="noreferrer">10.1002/ajmg.a.20664</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2004
Admiraal RJ
Adolescent
Adult
American Journal Of Medical Genetics.Part A
Backlog
Barth PG
Child
Cohort Studies
de Klerk JB
Developmental Disabilities/pathology
Duran M
Eye Diseases/pathology
Face/abnormalities
Female
Follow-up Studies
Gootjes J
Growth Disorders/pathology
Humans
Infant
Journal Article
Kidney/pathology
Liver/pathology
Male
Membrane Proteins/genetics
Mutation
Peroxisomal Disorders/genetics/mortality/pathology
Phenotype
Poll-The BT
Preschool
Q3 Scoping Review Results
Seizures/pathology
Spleen/pathology
Survival Rate
Time Factors
Wanders RJ
Waterham HR
Wenniger-Prick LJ
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1007/bf02254979" target="_blank" rel="noreferrer">http://doi.org/10.1007/bf02254979</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Clinical phenotype, prognosis and mitochondrial DNA mutation load in mitochondrial encephalomyopathies
Publisher
An entity responsible for making the resource available
Journal Of Biomedical Science
Date
A point or period of time associated with an event in the lifecycle of the resource
2002
Subject
The topic of the resource
Child; Female; Humans; Male; Adult; Prognosis; Mutation; adolescent; Q3 Literature Search; DNA; Muscle; Mitochondrial Encephalomyopathies/diagnosis/etiology/genetics; Mitochondrial/genetics; Skeletal/pathology
Creator
An entity primarily responsible for making the resource
Huang CC; Kuo HC; Chu CC; Liou CW; Ma YS; Wei YH
Description
An account of the resource
We studied 42 individuals, including 8 patients with either complete or partial syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), 8 patients with either complete or partial syndrome of myoclonic epilepsy with ragged-red fibers (MERRF) and 26 maternal family members who carried either the A3243G or A8344G mutation of mitochondrial DNA (mtDNA). Clinical manifestations and prognosis were followed up in the patients harboring the A3243G or A8344G mutation. The relationship between clinical features and proportions of mutant mtDNAs in muscle biopsies, blood cells and/or hair follicles was studied. In the 8 regularly followed patients with the A3243G mutation, 4 died within 1 month to 7 years due to status epilepticus and/or recurrent stroke-like episodes. Two patients developed marked mental deterioration and 2 remained stationary. All of the patients harboring the A8344G mutation were stable or deteriorated slightly, except for 1 patient who died due to brain herniation after putaminal hemorrhage. The A3243G and A8344G mtDNA mutations were heteroplasmic in the muscle biopsies, blood cells and hair follicles of both the probands and their maternal family members. The mean proportion of A3243G mutant mtDNA in the muscle biopsies of the patients with MELAS syndrome (68.5 +/- 21.3%, range 33-92%) was significantly higher than that of the asymptomatic family members (37.1 +/- 12.6%, range 0-51%). The average proportions of A8344G mutant mtDNA in the muscle biopsies (90.1 +/- 3.9%, range 89-95%) and hair follicles (93.9 +/- 6.4%, range 84-99%) of the patients with MERRF syndrome were also significantly higher than those of the asymptomatic family members (muscle: 40.3 +/- 39.5%, range 1-80%; hair follicles: 51.0 +/- 44.5%, range 0.1-82%). We concluded that measurement of the proportion of mutant mtDNA in muscle biopsies may provide useful information in the identification of symptomatic patients with mitochondrial encephalomyopathies. For patients with the A3243G mutation, the prognosis was related to status epilepticus and the number of recurrent stroke-like episodes and was much worse than for patients with the A8344G mutation of mtDNA, who had stable or slowly deteriorating clinical courses.
2002
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1007/bf02254979" target="_blank" rel="noreferrer">10.1007/bf02254979</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2002
Adolescent
Adult
Backlog
Child
Chu CC
DNA
Female
Huang CC
Humans
Journal Article
Journal Of Biomedical Science
Kuo HC
Liou CW
Ma YS
Male
Mitochondrial Encephalomyopathies/diagnosis/etiology/genetics
Mitochondrial/genetics
Muscle
Mutation
Prognosis
Q3 Scoping Review Results
Skeletal/pathology
Wei YH
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1007/s00415-003-0281-3" target="_blank" rel="noreferrer">http://doi.org/10.1007/s00415-003-0281-3</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Current classification of mitochondrial disorders
Publisher
An entity responsible for making the resource available
Journal Of Neurology
Date
A point or period of time associated with an event in the lifecycle of the resource
2003
Subject
The topic of the resource
Child; Humans; Adult; Mutation; Animals; adolescent; DNA; Mitochondrial/genetics; Mitochondrial Diseases/classification/genetics
Creator
An entity primarily responsible for making the resource
Andreu AL; DiMauro S
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1007/s00415-003-0281-3" target="_blank" rel="noreferrer">10.1007/s00415-003-0281-3</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
Description
An account of the resource
2003
2003
Adolescent
Adult
Andreu AL
Animals
Backlog
Child
DiMauro S
DNA
Humans
Journal Article
Journal Of Neurology
Mitochondrial Diseases/classification/genetics
Mitochondrial/genetics
Mutation
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1086/378418" target="_blank" rel="noreferrer">http://doi.org/10.1086/378418</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis
Publisher
An entity responsible for making the resource available
American Journal Of Human Genetics
Date
A point or period of time associated with an event in the lifecycle of the resource
2003
Subject
The topic of the resource
Female; Humans; Male; Family; Mutation; Animals; Molecular Sequence Data; Non-U.S. Gov't; Research Support; Pedigree; Membrane Proteins/genetics; Base Sequence; Amino Acid Sequence; Amino Acid; DNA Primers; Fibroma/genetics; Genetic Markers; Gingival Hypertrophy/genetics; In Situ Hybridization; Myofibromatosis/genetics; Reverse Transcriptase Polymerase Chain Reaction; Sequence Alignment; Sequence Homology; Skin Neoplasms/genetics
Creator
An entity primarily responsible for making the resource
Hanks S; Adams S; Douglas J; Arbour L; Atherton DJ; Balci S; Bode H; Campbell ME; Feingold M; Keser G; Kleijer W; Mancini G; McGrath JA; Muntoni F; Nanda A; Teare MD; Warman M; Pope FM; Superti-Furga A; Futreal PA; Rahman N
Description
An account of the resource
Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are autosomal recessive conditions characterized by multiple subcutaneous skin nodules, gingival hypertrophy, joint contractures, and hyaline deposition. We previously mapped the gene for JHF to chromosome 4q21. We now report the identification of 15 different mutations in the gene encoding capillary morphogenesis protein 2 (CMG2) in 17 families with JHF or ISH. CMG2 is a transmembrane protein that is induced during capillary morphogenesis and that binds laminin and collagen IV via a von Willebrand factor type A (vWA) domain. Of interest, CMG2 also functions as a cellular receptor for anthrax toxin. Preliminary genotype-phenotype analyses suggest that abrogation of binding by the vWA domain results in severe disease typical of ISH, whereas in-frame mutations affecting a novel, highly conserved cytoplasmic domain result in a milder phenotype. These data (1) demonstrate that JHF and ISH are allelic conditions and (2) implicate perturbation of basement-membrane matrix assembly as the cause of the characteristic perivascular hyaline deposition seen in these conditions.
2003
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1086/378418" target="_blank" rel="noreferrer">10.1086/378418</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2003
Adams S
American Journal Of Human Genetics
Amino Acid
Amino Acid Sequence
Animals
Arbour L
Atherton DJ
Backlog
Balci S
Base Sequence
Bode H
Campbell ME
DNA Primers
Douglas J
Family
Feingold M
Female
Fibroma/genetics
Futreal PA
Genetic Markers
Gingival Hypertrophy/genetics
Hanks S
Humans
In Situ Hybridization
Journal Article
Keser G
Kleijer W
Male
Mancini G
McGrath JA
Membrane Proteins/genetics
Molecular Sequence Data
Muntoni F
Mutation
Myofibromatosis/genetics
Nanda A
Non-U.S. Gov't
Pedigree
Pope FM
Rahman N
Research Support
Reverse Transcriptase Polymerase Chain Reaction
Sequence Alignment
Sequence Homology
Skin Neoplasms/genetics
Superti-Furga A
Teare MD
Warman M
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1086/378781" target="_blank" rel="noreferrer">http://doi.org/10.1086/378781</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis
Publisher
An entity responsible for making the resource available
American Journal Of Human Genetics
Date
A point or period of time associated with an event in the lifecycle of the resource
2003
Subject
The topic of the resource
Child; Female; Humans; Male; Mutation; P.H.S.; Research Support; U.S. Gov't; Syndrome; infant; Models; Pedigree; Membrane Proteins/genetics; Base Sequence; Amino Acid Sequence; Exons; Genes; Recessive; Missense; Molecular; Chromosome Mapping; Fibroma/genetics; Genetic Markers; Focal/genetics; Glomerulosclerosis; Protein Conformation; Protein Structure; Secondary
Creator
An entity primarily responsible for making the resource
Dowling O; Difeo A; Ramirez MC; Tukel T; Narla G; Bonafe L; Kayserili H; Yuksel-Apak M; Paller AS; Norton K; Teebi AS; Grum-Tokars V; Martin GS; Davis GE; Glucksman MJ; Martignetti JA
Description
An account of the resource
Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are autosomal recessive syndromes of unknown etiology characterized by multiple, recurring subcutaneous tumors, gingival hypertrophy, joint contractures, osteolysis, and osteoporosis. Both are believed to be allelic disorders; ISH is distinguished from JHF by its more severe phenotype, which includes hyaline deposits in multiple organs, recurrent infections, and death within the first 2 years of life. Using the previously reported chromosome 4q21 JHF disease locus as a guide for candidate-gene identification, we identified and characterized JHF and ISH disease-causing mutations in the capillary morphogenesis factor-2 gene (CMG2). Although CMG2 encodes a protein upregulated in endothelial cells during capillary formation and was recently shown to function as an anthrax-toxin receptor, its physiologic role is unclear. Two ISH family-specific truncating mutations, E220X and the 1-bp insertion P357insC that results in translation of an out-of-frame stop codon, were generated by site-directed mutagenesis and were shown to delete the CMG-2 transmembrane and/or cytosolic domains, respectively. An ISH compound mutation, I189T, is predicted to create a novel and destabilizing internal cavity within the protein. The JHF family-specific homoallelic missense mutation G105D destabilizes a von Willebrand factor A extracellular domain alpha-helix, whereas the other mutation, L329R, occurs within the transmembrane domain of the protein. Finally, and possibly providing insight into the pathophysiology of these diseases, analysis of fibroblasts derived from patients with JHF or ISH suggests that CMG2 mutations abrogate normal cell interactions with the extracellular matrix.
2003
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1086/378781" target="_blank" rel="noreferrer">10.1086/378781</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2003
American Journal Of Human Genetics
Amino Acid Sequence
Backlog
Base Sequence
Bonafe L
Child
Chromosome Mapping
Davis GE
Difeo A
Dowling O
Exons
Female
Fibroma/genetics
Focal/genetics
Genes
Genetic Markers
Glomerulosclerosis
Glucksman MJ
Grum-Tokars V
Humans
Infant
Journal Article
Kayserili H
Male
Martignetti JA
Martin GS
Membrane Proteins/genetics
Missense
Models
Molecular
Mutation
Narla G
Norton K
P.H.S.
Paller AS
Pedigree
Protein Conformation
Protein Structure
Ramirez MC
Recessive
Research Support
Secondary
Syndrome
Teebi AS
Tukel T
U.S. Gov't
Yuksel-Apak M
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1093/brain/awh259" target="_blank" rel="noreferrer">http://doi.org/10.1093/brain/awh259</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Mitochondrial disorders
Publisher
An entity responsible for making the resource available
Brain
Date
A point or period of time associated with an event in the lifecycle of the resource
2004
Subject
The topic of the resource
Child; Humans; Adult; Mutation; DNA; Mitochondrial/genetics; DNA/genetics; Electron Transport/genetics; Gene Rearrangement/genetics; Mitochondrial Diseases/genetics/therapy; Oxidative Phosphorylation; Point Mutation/genetics; Proteins/genetics
Creator
An entity primarily responsible for making the resource
Zeviani M; Di Donato S
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1093/brain/awh259" target="_blank" rel="noreferrer">10.1093/brain/awh259</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
Description
An account of the resource
In the medical literature the term 'mitochondrial disorders' is to a large extent applied to the clinical syndromes associated with abnormalities of the common final pathway of mitochondrial energy metabolism, i.e. oxidative phosphorylation (OXPHOS). Faulty oxidative phosphorylation may be due to overall dysfunction of the respiratory chain, a heteromultimeric structure embedded in the inner mitochondrial membrane, or can be associated with single or multiple defects of the five complexes forming the respiratory chain itself. From the genetic standpoint, the respiratory chain is a unique structure of the inner mitochondrial membrane formed by means of the complementation of two separate genetic systems: the nuclear genome and the mitochondrial genome. The nuclear genome encodes the large majority of the protein subunits of the respiratory complexes and most of the mitochondrial DNA (mtDNA) replication and expression systems, whereas the mitochondrial genome encodes only 13 respiratory complex subunits, and some RNA components of the mitochondrial translational apparatus. Accordingly, mitochondrial disorders due to defects in OXPHOS include both mendelian-inherited and cytoplasmic-inherited diseases. This review describes human genetic diseases associated with mtDNA and nuclear DNA mutations leading to impaired OXPHOS.
2004
Adult
Backlog
Brain
Child
Di Donato S
DNA
DNA/genetics
Electron Transport/genetics
Gene Rearrangement/genetics
Humans
Journal Article
Mitochondrial Diseases/genetics/therapy
Mitochondrial/genetics
Mutation
Oxidative Phosphorylation
Point Mutation/genetics
Proteins/genetics
Zeviani M
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1542/peds.112.2.332" target="_blank" rel="noreferrer">http://doi.org/10.1542/peds.112.2.332</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature
Publisher
An entity responsible for making the resource available
Pediatrics
Date
A point or period of time associated with an event in the lifecycle of the resource
2003
Subject
The topic of the resource
Humans; infant; Disease Progression; Mutation; Survival Analysis; Child Development; infant; Premature; AIM; IM; Blood Chemical Analysis; alpha-Glucosidases/ge [Genetics]; alpha-Glucosidases/me [Metabolism]; Brain/pa [Pathology]; Cardiomegaly/di [Diagnosis]; Cardiomegaly/et [Etiology]; Glycogen Storage Disease Type II/co [Complications]; Glycogen Storage Disease Type II/mo [Mortality]; Glycogen Storage Disease Type II/pp [Physiopathology]; Netherlands/ep [Epidemiology]; Newborn/gd [Growth & Development]
Creator
An entity primarily responsible for making the resource
van den Hout HM; Hop W; van Diggelen OP; Smeitink JA; Smit GP; Poll-The BT; Bakker HD; Loonen MC; de Klerk JB; Reuser AJ; Van der Ploeg AT
Description
An account of the resource
OBJECTIVE: Infantile Pompe's disease is a lethal cardiac and muscular disorder. Current developments toward enzyme replacement therapy are promising. The aim of our study is to delineate the natural course of the disease to verify endpoints of clinical studies. METHODS: A total of 20 infantile patients diagnosed by the collaborative Dutch centers and 133 cases reported in literature were included in the study. Information on clinical history, physical examination, and diagnostic parameters was collected. RESULTS: The course of Pompe's disease is essentially the same in the Dutch and the general patient population. Symptoms start at a median age of 1.6 months in both groups. The median age of death is 7.7 and 6 months, respectively. Five percent of the Dutch patients and 8% of all reported patients survive beyond 1 year of age. Only 2 patients from literature became older than 18 months. A progressive cardiac hypertrophy is characteristic for infantile Pompe's disease. The diastolic thickness of the left ventricular posterior wall and cardiac weight at autopsy increase significantly with age. Motor development is severely delayed and major developmental milestones are generally not achieved. For the Dutch patient group, growth deviates significantly from normal despite start of nasogastric tube feeding. Levels of aspartate aminotransferase, alanine aminotransferase, lactate dehydrogenase, creatine kinase, or creatine kinase-myocardial band isoenzyme are typically elevated, although aspartate aminotransferase, alanine aminotransferase, and lactate dehydrogenase increase significantly with age. The patients have fully deleterious mutations. Acid alpha-glucosidase activity is severely deficient. CONCLUSIONS: Survival, decrease of the diastolic thickness of the left ventricular posterior wall, and achievement of major motor milestones are valid endpoints for therapeutic studies of infantile Pompe's disease. Mutation analysis and measurement of the alpha-glucosidase activity should be part of the enrollment program. [References: 111]
2003
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1542/peds.112.2.332" target="_blank" rel="noreferrer">10.1542/peds.112.2.332</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2003
AIM
alpha-Glucosidases/ge [Genetics]
alpha-Glucosidases/me [Metabolism]
Backlog
Bakker HD
Blood Chemical Analysis
Brain/pa [Pathology]
Cardiomegaly/di [Diagnosis]
Cardiomegaly/et [Etiology]
Child Development
de Klerk JB
Disease Progression
Glycogen Storage Disease Type II/co [Complications]
Glycogen Storage Disease Type II/mo [Mortality]
Glycogen Storage Disease Type II/pp [Physiopathology]
Hop W
Humans
IM
Infant
Journal Article
Loonen MC
Mutation
Netherlands/ep [Epidemiology]
Newborn/gd [Growth & Development]
Pediatrics
Poll-The BT
Premature
Reuser AJ
Smeitink JA
Smit GP
Survival Analysis
van den Hout HM
Van der Ploeg AT
van Diggelen OP
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1542/peds.2004-0718" target="_blank" rel="noreferrer">http://doi.org/10.1542/peds.2004-0718</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease
Publisher
An entity responsible for making the resource available
Pediatrics
Date
A point or period of time associated with an event in the lifecycle of the resource
2004
Subject
The topic of the resource
Child; Female; Humans; infant; Male; Mutation; Survival Analysis; adolescent; Preschool; Non-U.S. Gov't; Research Support; infant; Newborn; retrospective studies; Age of Onset; DNA; Cardiomyopathies/etiology/mortality; Electron Transport; Electron Transport Chain Complex Proteins/deficiency; Mitochondrial; Mitochondrial Diseases/complications/genetics/mortality; Neuromuscular Diseases/etiology/mortality
Creator
An entity primarily responsible for making the resource
Scaglia F; Towbin JA; Craigen WJ; Belmont JW; Smith EO; Neish SR; Ware SM; Hunter JV; Fernbach SD; Vladutiu GD; Wong LJ; Vogel H
Description
An account of the resource
OBJECTIVES: The aim of this study was to elucidate the frequency of major clinical manifestations in children with mitochondrial disease and establish their clinical course, prognosis, and rates of survival depending on their clinical features. METHODS: We performed a retrospective review of the medical records of 400 patients who were referred for evaluation of mitochondrial disease. By use of the modified Walker criteria, only patients who were assigned a definite diagnosis were included in the study. RESULTS: A total of 113 pediatric patients with mitochondrial disease were identified. A total of 102 (90%) patients underwent a muscle biopsy as part of the diagnostic workup. A significant respiratory chain (RC) defect, according to the diagnostic criteria, was found in 71% of the patients who were evaluated. In this cohort, complex I deficiency (32%) and combined complex I, III, and IV deficiencies (26%) were the most common causes of RC defects, followed by complex IV (19%), complex III (16%), and complex II deficiencies (7%). Pathogenic mitochondrial DNA abnormalities were found in 11.5% of the patients. A substantial fraction (40%) of patients with mitochondrial disorders exhibited cardiac disease, diagnosed by Doppler echocardiography; however, the majority (60%) of patients had predominant neuromuscular manifestations. No correlation between the type of RC defect and the clinical presentation was observed. Overall, the mean age at presentation was 40 months. However, the mean age at presentation was 33 months in the cardiac group and 44 months in the noncardiac group. Twenty-six (58%) patients in the cardiac group exhibited hypertrophic cardiomyopathy, 29% had dilated cardiomyopathy, and the remainder (13%) had left ventricular noncompaction. Patients with cardiomyopathy had an 18% survival rate at 16 years of age. Patients with neuromuscular features but no cardiomyopathy had a 95% survival at the same age. CONCLUSIONS: This study gives strong support to the view that in patients with RC defects, cardiomyopathy is more common than previously thought and tends to follow a different and more severe clinical course. Although with a greater frequency than previously reported, mitochondrial DNA mutations were found in a minority of patients, emphasizing that most mitochondrial disorders of childhood follow a Mendelian pattern of inheritance.
2004
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1542/peds.2004-0718" target="_blank" rel="noreferrer">10.1542/peds.2004-0718</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2004
Adolescent
Age of Onset
Backlog
Belmont JW
Cardiomyopathies/etiology/mortality
Child
Craigen WJ
DNA
Electron Transport
Electron Transport Chain Complex Proteins/deficiency
Female
Fernbach SD
Humans
Hunter JV
Infant
Journal Article
Male
Mitochondrial
Mitochondrial Diseases/complications/genetics/mortality
Mutation
Neish SR
Neuromuscular Diseases/etiology/mortality
Newborn
Non-U.S. Gov't
Pediatrics
Preschool
Research Support
Retrospective Studies
Scaglia F
Smith EO
Survival Analysis
Towbin JA
Vladutiu GD
Vogel H
Ware SM
Wong LJ
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1016/s0022-3476(97)70312-3" target="_blank" rel="noreferrer">http://doi.org/10.1016/s0022-3476(97)70312-3</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients
Publisher
An entity responsible for making the resource available
The Journal Of Pediatrics
Date
A point or period of time associated with an event in the lifecycle of the resource
1997
Subject
The topic of the resource
Female; Humans; infant; Male; Mutation; Fatal Outcome; infant; Q3 Literature Search; Newborn; Lipid Metabolism; 3-Hydroxyacyl CoA Dehydrogenases/deficiency; Cardiomyopathies/etiology; Hypoglycemia/etiology; Inborn Errors/complications/diet therapy/genetics; Liver Diseases/etiology; Muscle Hypotonia/etiology; Retinal Diseases/etiology
Creator
An entity primarily responsible for making the resource
Tyni T; Palotie A; Viinikka L; Valanne L; Salo MK; von Dobeln U; Jackson S; Wanders R; Venizelos N; Pihko H
Description
An account of the resource
Long-chain 3-hydroxyacyl-coenzyme A (CoA) dehydrogenase is one of three enzyme activities of the mitochondrial trifunctional protein. We report the clinical findings of 13 patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. At presentation the patients had had hypoglycemia, cardiomyopathy, muscle hypotonia, and hepatomegaly during the first 2 years of life. Seven patients had recurrent metabolic crises, and six patients had a steadily progressive course. Two patients had cholestatic liver disease, which is uncommon in beta-oxidation defects. One patient had peripheral neuropathy, and six patients had retinopathy with focal pigmentary aggregations or retinal hypopigmentation. All patients were homozygous for the common mutation G1528C. However, the enoyl-CoA hydratase and 3-ketoacyl-CoA thiolase activities of the mitochondrial trifunctional protein were variably decreased in skin fibroblasts. Dicarboxylic aciduria was detected in 9 of 10 patients, and most patients had lactic acidosis, increased serum creatine kinase activities, and low serum carnitine concentration. Neuroradiologically there was bilateral periventricular or focal cortical lesions in three patients, and brain atrophy in one. Only one patient, who has had dietary treatment for 9 years, is alive at the age of 14 years; all others died before they were 2 years of age. Recognition of the clinical features of long-chain 3-hydroxyacyl-CoA deficiency is important for the early institution of dietary management, which may alter the otherwise invariably poor prognosis.
1997
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1016/s0022-3476(97)70312-3" target="_blank" rel="noreferrer">10.1016/s0022-3476(97)70312-3</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
1997
3-Hydroxyacyl CoA Dehydrogenases/deficiency
Backlog
Cardiomyopathies/etiology
Fatal Outcome
Female
Humans
Hypoglycemia/etiology
Inborn Errors/complications/diet therapy/genetics
Infant
Jackson S
Journal Article
Lipid Metabolism
Liver Diseases/etiology
Male
Muscle Hypotonia/etiology
Mutation
Newborn
Palotie A
Pihko H
Q3 Scoping Review Results
Retinal Diseases/etiology
Salo MK
The Journal Of Pediatrics
Tyni T
Valanne L
Venizelos N
Viinikka L
von Dobeln U
Wanders R
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1086/318197" target="_blank" rel="noreferrer">http://doi.org/10.1086/318197</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
A Genomewide Linkage-Disequilibrium Scan Localizes the Saguenay -Lac-Saint-Jean Cytochrome Oxidase Deficiency to 2p16
Publisher
An entity responsible for making the resource available
American Journal Of Human Genetics
Date
A point or period of time associated with an event in the lifecycle of the resource
2001
Subject
The topic of the resource
Female; Humans; Male; Mutation; Family Health; Gene Frequency; Molecular Sequence Data; DNA Mutational Analysis; DNA/chemistry/genetics; Pedigree; Chromosomes; Human; Base Sequence; Disease Specific; Chromosome Mapping; Cytochrome-c Oxidase Deficiency; Electron Transport Complex IV/genetics; Genes/genetics; Genome; Haplotypes; Leigh Disease/enzymology/genetics; Linkage Disequilibrium; Microsatellite Repeats; Pair 2/genetics; Polymorphism; Single Nucleotide
Creator
An entity primarily responsible for making the resource
Lee N; Daly MJ; Delmonte T; Lander ES; Xu F; Hudson TJ; Mitchell GA; Morin CC; Robinson BH; Rioux JD
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1086/318197" target="_blank" rel="noreferrer">10.1086/318197</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
Description
An account of the resource
2001
2001
American Journal Of Human Genetics
Backlog
Base Sequence
Chromosome Mapping
Chromosomes
Cytochrome-c Oxidase Deficiency
Daly MJ
Delmonte T
Disease Specific
DNA Mutational Analysis
DNA/chemistry/genetics
Electron Transport Complex IV/genetics
Family Health
Female
Gene Frequency
Genes/genetics
Genome
Haplotypes
Hudson TJ
Human
Humans
Journal Article
Lander ES
Lee N
Leigh Disease/enzymology/genetics
Linkage Disequilibrium
Male
Microsatellite Repeats
Mitchell GA
Molecular Sequence Data
Morin CC
Mutation
Pair 2/genetics
Pedigree
Polymorphism
Rioux JD
Robinson BH
Single Nucleotide
Xu F
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1126/science.282.5391.1075" target="_blank" rel="noreferrer">http://doi.org/10.1126/science.282.5391.1075</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Genetic classification of primary neurodegenerative disease
Publisher
An entity responsible for making the resource available
Science
Date
A point or period of time associated with an event in the lifecycle of the resource
1998
Subject
The topic of the resource
Humans; Mutation; Brain; Neurodegenerative Diseases; Genes; Trinucleotide Repeats; Parkinson Disease; Alzheimer Disease; Dominant; Nerve Tissue Proteins; Peptides; Synucleins; tau Proteins
Creator
An entity primarily responsible for making the resource
Hardy J; Gwinn-Hardy K
Description
An account of the resource
Review During the past 10 years (the "decade of the brain"), some of the genetic causes of many of the primary neurodegenerative diseases, which include Alzheimer's disease, Parkinson's disease, Huntington's disease, amyotrophic lateral sclerosis, prion disease, and many ataxic syndromes, have been found. These breakthroughs mean that for many of these diseases we now know the initiating trigger as well as the final outcome. These diseases have many pathological mechanisms in common, and there may be relatively few pathways to neuronal death seen in these disorders. Thus, treatment strategies developed for a particular disease may be found to have efficacy in more than one disorder.
1998-11
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1126/science.282.5391.1075" target="_blank" rel="noreferrer">10.1126/science.282.5391.1075</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
1998
Alzheimer Disease
Backlog
Brain
Dominant
Genes
Gwinn-Hardy K
Hardy J
Humans
Journal Article
Mutation
Nerve Tissue Proteins
Neurodegenerative Diseases
Parkinson Disease
Peptides
Science
Synucleins
tau Proteins
Trinucleotide Repeats
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1016/j.bbadis.2012.03.012" target="_blank" rel="noreferrer">http://doi.org/10.1016/j.bbadis.2012.03.012</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects
Publisher
An entity responsible for making the resource available
Biochimica Et Biophysica Acta
Date
A point or period of time associated with an event in the lifecycle of the resource
2012
Subject
The topic of the resource
Female; Humans; Pregnancy; Mutation; Prenatal Diagnosis; Brain; Animals; Phenotype; Adrenoleukodystrophy; ATP-Binding Cassette Transporters; Fatty Acids
Creator
An entity primarily responsible for making the resource
Kemp S; Berger J; Aubourg P
Description
An account of the resource
X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disease. The two main clinical phenotypes of X-ALD are adrenomyeloneuropathy (AMN) and inflammatory cerebral ALD that manifests either in children or more rarely in adults. About 65% of heterozygote females develop symptoms by the age of 60years. Mutations in the ABCD1 gene affect the function of the encoded protein ALDP, an ATP-binding-cassette (ABC) transporter located in the peroxisomal membrane protein. ALDP deficiency impairs the peroxisomal beta-oxidation of very long-chain fatty acids (VLCFA) and facilitates their further chain elongation by ELOVL1 resulting in accumulation of VLCFA in plasma and tissues. While all patients have mutations in the ABCD1 gene, there is no general genotype-phenotype correlation. Environmental factors and a multitude of modifying genes appear to determine the clinical manifestation in this monogenetic but multifactorial disease. This review focuses on the clinical, biochemical, genetic and pathophysiological aspects of X-ALD.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1016/j.bbadis.2012.03.012" target="_blank" rel="noreferrer">10.1016/j.bbadis.2012.03.012</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2012
Adrenoleukodystrophy
Animals
ATP-Binding Cassette Transporters
Aubourg P
Backlog
Berger J
Biochimica Et Biophysica Acta
Brain
Fatty Acids
Female
Humans
Journal Article
Kemp S
Mutation
Phenotype
Pregnancy
Prenatal Diagnosis