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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
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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
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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/10.1016/s0022-3476(05)81695-6" target="_blank" rel="noreferrer">http://doi.org/10.1016/s0022-3476(05)81695-6</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
Niemann-Pick disease type C: diagnosis and outcome in children, with particular reference to liver disease
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
1993
Subject
The topic of the resource
Child; Female; Humans; Male; Prognosis; Age Factors; Biopsy; Preschool; infant; Q3 Literature Search; retrospective studies; Splenomegaly/etiology; Liver/pathology; Liver Function Tests; Developmental Disabilities/etiology; Kupffer Cells/pathology; Liver Diseases/diagnosis/etiology/mortality; Niemann-Pick Diseases/complications/diagnosis/mortality
Creator
An entity primarily responsible for making the resource
Kelly DA; Portmann B; Mowat AP; Sherlock S; Lake BD
Description
An account of the resource
The records of 52 children with Niemann-Pick disease type C were reviewed to establish whether the disease process and outcome varied with the initial clinical pattern; 34 children (65%) had cholestatic liver disease and hepatosplenomegaly in infancy; 18 were seen at a mean age of 4 years with splenomegaly or neurologic disease or both. Of the 34 children with early cholestatic liver disease, three died in the neonatal period; cholestasis and hepatomegaly subsided in the remaining 31 children, although splenomegaly persisted. Of these 31 children, 15 had persistent liver disease with elevated aminotransferase values. Serial liver biopsy specimens showed that 3 of the 15 children had normal architecture and 12 had hepatic fibrosis, with progression to cirrhosis in 5. No other significant morbidity or additional deaths were associated with the liver disease. The clinical importance of persistent liver disease was overshadowed by the subsequent development of severe neurologic disease. There was no difference in the age at onset of the disease (mean, 4.5 years) or in the pattern of neurologic disease, including supranuclear ophthalmoplegia, whether or not the child had early liver disease. Overt neurologic disease has not yet developed in seven surviving children with liver disease at onset. Sixty-seven percent of children died during the study; the main cause of death was bronchopneumonia. We conclude that the diagnosis of Niemann-Pick disease type C should be considered in patients with unexplained neonatal hepatitis, especially if splenomegaly is a persistent feature. Because liver biopsy specimens may not demonstrate storage cells, bone marrow aspiration to detect the characteristic storage cells is recommended in such patients.
1993
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1016/s0022-3476(05)81695-6" target="_blank" rel="noreferrer">10.1016/s0022-3476(05)81695-6</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
1993
Age Factors
Backlog
Biopsy
Child
Developmental Disabilities/etiology
Female
Humans
Infant
Journal Article
Kelly DA
Kupffer Cells/pathology
Lake BD
Liver Diseases/diagnosis/etiology/mortality
Liver Function Tests
Liver/pathology
Male
Mowat AP
Niemann-Pick Diseases/complications/diagnosis/mortality
Portmann B
Preschool
Prognosis
Q3 Scoping Review Results
Retrospective Studies
Sherlock S
Splenomegaly/etiology
The Journal Of Pediatrics