[From gene to disease; X-linked adrenoleukodystrophy].

M, Engelen; S, Kemp; B M, van Geel

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Article . 2008

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[From gene to disease; X-linked adrenoleukodystrophy].

descriptionPublicationkeyboard_double_arrow_right Article 17 Jun 2008 Dutch; Flemish Journal:Nederlands tijdschrift voor geneeskunde, volume 152 (issn: 0028-2162,

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Authors: M, Engelen; S, Kemp; B M, van Geel;

pmid: 18491823

[From gene to disease; X-linked adrenoleukodystrophy].

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Abstract

X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, characterized by impaired peroxisomal beta-oxidation, subsequent accumulation of very long-chain fatty acids (> 22 carbon atoms), and mutations in the ABCD1 gene. Clinical manifestations, diagnostic procedures and treatment options are discussed.

Related Organizations

University of Amsterdam
Netherlands
Amsterdam UMC, location AMC
Netherlands

Keywords

Fatty Acids, Peroxisomes, Humans, Genetic Diseases, X-Linked, Lipid Peroxidation, Adrenoleukodystrophy, Oxidation-Reduction

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