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Text
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URL Address
<a href="http://doi.org/10.1002/ana.20702" target="_blank" rel="noreferrer">http://doi.org/10.1002/ana.20702</a>
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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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Clinical and biochemical spectrum of D-bifunctional protein deficiency
Publisher
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Annals Of Neurology
Date
A point or period of time associated with an event in the lifecycle of the resource
2006
Subject
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Child; Humans; Cohort Studies; Questionnaires; Longitudinal Studies; Magnetic Resonance Imaging; Preschool; infant; Lipid Metabolism; 3-Hydroxyacyl CoA Dehydrogenases/deficiency; Blood Chemical Analysis; Bone and Bones/anatomy & histology/pathology; Brain/anatomy & histology/pathology; Enoyl-CoA Hydratase/deficiency; Fibroblasts/cytology/metabolism; Inborn Errors; Isomerases/deficiency; Kidney/anatomy & histology/pathology; Life Expectancy; Liver/anatomy & histology/pathology; Multienzyme Complexes/deficiency; Peroxisomal Disorders/classification/pathology/physiopathology
Creator
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Ferdinandusse S; Denis S; Mooyer PA; Dekker C; Duran M; Soorani-Lunsing RJ; Boltshauser E; Macaya A; Gartner J; Majoie CB; Barth PG; Wanders RJ; Poll-The BT
Description
An account of the resource
OBJECTIVE: D-bifunctional protein deficiency is an autosomal recessive inborn error of peroxisomal fatty acid oxidation. Although case reports and small series of patients have been published, these do not give a complete and balanced picture of the clinical and biochemical spectrum associated with this disorder. METHODS: To improve early recognition, diagnosis, prognosis, and management of this disorder and to provide markers for life expectancy, we performed extensive biochemical studies in a large cohort of D-bifunctional protein-deficient patients and sent out questionnaires about clinical signs and symptoms to the responsible physicians. RESULTS: Virtually all children presented with neonatal hypotonia and seizures and died within the first 2 years of life without achieving any developmental milestones. However, within our cohort, 12 patients survived beyond the age of 2 years, and detailed information on 5 patients with prolonged survival (> or =7.5 years) is provided. INTERPRETATION: Biochemical analyses showed that there is a clear correlation between several biochemical parameters and survival of the patient, with C26:0 beta-oxidation activity in cultured skin fibroblasts being the best predictive marker for life expectancy. Remarkably, three patients were identified without biochemical abnormalities in plasma, stressing that D-bifunctional protein deficiency cannot be excluded when all peroxisomal parameters in plasma are normal.
2006
Identifier
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<a href="http://doi.org/10.1002/ana.20702" target="_blank" rel="noreferrer">10.1002/ana.20702</a>
Rights
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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
3-Hydroxyacyl CoA Dehydrogenases/deficiency
Annals Of Neurology
Backlog
Barth PG
Blood Chemical Analysis
Boltshauser E
Bone and Bones/anatomy & histology/pathology
Brain/anatomy & histology/pathology
Child
Cohort Studies
Dekker C
Denis S
Duran M
Enoyl-CoA Hydratase/deficiency
Ferdinandusse S
Fibroblasts/cytology/metabolism
Gartner J
Humans
Inborn Errors
Infant
Isomerases/deficiency
Journal Article
Kidney/anatomy & histology/pathology
Life Expectancy
Lipid Metabolism
Liver/anatomy & histology/pathology
Longitudinal Studies
Macaya A
Magnetic Resonance Imaging
Majoie CB
Mooyer PA
Multienzyme Complexes/deficiency
Peroxisomal Disorders/classification/pathology/physiopathology
Poll-The BT
Preschool
Questionnaires
Soorani-Lunsing RJ
Wanders RJ
-
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
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Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients
Publisher
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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
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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