Article
Adrenoleukodystrophy gene: unexpected homology to a protein involved in peroxisome biogenesis.
Biochimie - 1 Jan 1993
Aubourg P, Mosser J, Douar A M, Sarde C O, Lopez J, Mandel J L
Abstract excerpt
Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder characterized by a progressive demyelination of the central nervous system and adrenal insufficiency. Clinical phenotypes of different severity are frequently observed within the same kindred. ALD is characterized biochemically by the accumulation of very-long-chain fatty acids (VLCFA) due to an impairment in the beta-oxidation of these fatty acids in...
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