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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.