Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders.

doi:10.1055/s-0036-1582140

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Article

Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders.

Neuropediatrics - 1 Aug 2016

Klouwer Femke C C, Huffnagel Irene C, Ferdinandusse Sacha, Waterham Hans R, Wanders Ronald J A, Engelen Marc, Poll-The Bwee Tien

Abstract excerpt

Peroxisomal disorders are a heterogeneous group of genetic metabolic disorders, caused by a defect in peroxisome biogenesis or a deficiency of a single peroxisomal enzyme. The peroxisomal disorders include the Zellweger spectrum disorders, the rhizomelic chondrodysplasia punctata spectrum disorders, X-linked adrenoleukodystrophy, and multiple single enzyme deficiencies. There are several core phenotypes caused by...

Topics

Adrenoleukodystrophy
Age of Onset
Biomarkers
Chondrodysplasia Punctata, Rhizomelic
DNA Mutational Analysis
Genotype
Humans
Peroxisomal Disorders
Phenotype
Racemases and Epimerases
Refsum Disease
Zellweger Syndrome

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Open in PubMed

Identifiers

PMID: 27089543
DOI: 10.1055/s-0036-1582140

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