Article
Clinical and Laboratory Diagnosis of Peroxisomal Disorders.
Methods in molecular biology (Clifton, N.J.) - 1 Jan 2017
Wanders Ronald J A, Klouwer Femke C C, Ferdinandusse Sacha, Waterham Hans R, Poll-Thé Bwee Tien
Abstract excerpt
The peroxisomal disorders (PDs) are a heterogeneous group of genetic diseases in man caused by an impairment in peroxisome biogenesis or one of the metabolic functions of peroxisomes. Thanks to the revolutionary technical developments in gene sequencing methods and their increased use in patient diagnosis, the field of genetic diseases in general and peroxisomal disorders in particular has dramatically changed in...
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