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40
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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.2007-0282" target="_blank" rel="noreferrer">http://doi.org/10.1542/peds.2007-0282</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
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Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A)
Publisher
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Pediatrics
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; infant; Male; Cohort Studies; Adult; Questionnaires; Disease Progression; Research Design; Longitudinal Studies; adolescent; Preschool; infant; Q3 Literature Search; Newborn; Mucopolysaccharidosis III/classification/diagnosis/pathology
Creator
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Meyer A; Kossow K; Gal A; Muhlhausen C; Ullrich K; Braulke T; Muschol N
Description
An account of the resource
OBJECTIVE: Mucopolysaccharidosis types IIIA through IIID (Sanfilippo syndrome) are caused by deficiencies of enzymes involved in the degradation of heparan sulfate. The onset and severity of the disease are highly variable. The purpose of this study was to describe the natural course of mucopolysaccharidosis type IIIA in a large cohort of patients. PATIENTS AND METHODS: The natural course of mucopolysaccharidosis type IIIA was assessed in 71 patients by using a detailed questionnaire and a 4-point scoring system and compared with the course of the disease in 14 patients with mucopolysaccharidosis type IIIB and 4 patients with mucopolysaccharidosis type IIIC. RESULTS: In the cohort of patients with mucopolysaccharidosis type IIIA, first symptoms of disease were observed, on average, at 7 months of age. Speech and motor development were delayed in 66.2% and 33.9% of patients, respectively. The median age at diagnosis was 4.5 years. The onset of regression in speech, motor, and cognitive function was observed at an average age of 3.3 years. The loss of all 3 of the assessed abilities was observed at an average age of 12.5 years. Speech was lost before motor and cognitive functions. In a small group of patients who were >12.5 years of age (9.9%), speech, motor, and cognitive skills were partially preserved up to a maximum age of 23.8 years. CONCLUSIONS: To our knowledge, this is the first systematic and comprehensive study on the natural course of mucopolysaccharidosis type IIIA. The 4-point scoring system may be used to classify patients into groups with a rapid or slower course of the disease. This may have an important impact on parental counseling as well as therapeutic interventions.
2007
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1542/peds.2007-0282" target="_blank" rel="noreferrer">10.1542/peds.2007-0282</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
Braulke T
Child
Cohort Studies
Disease Progression
Female
Gal A
Humans
Infant
Journal Article
Kossow K
Longitudinal Studies
Male
Meyer A
Mucopolysaccharidosis III/classification/diagnosis/pathology
Muhlhausen C
Muschol N
Newborn
Pediatrics
Preschool
Q3 Scoping Review Results
Questionnaires
Research Design
Ullrich K
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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
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Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations
Publisher
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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