Article
[Adrenoleukodystrophy: genetics, phenotypes, pathogenesis, and treatment].
Annali dell'Istituto superiore di sanita - 1 Jan 1999
Di Biase A, Avellino C, Salvati S
Abstract excerpt
Adrenoleukodystrophy is a genetically determined disorder inherited as an X-linked recessive trait due to the defective peroxisomal oxydation of very long chain fatty acids (VLCFA). It is hallmarked by demyelination of the central nervous system and adrenal insufficiency. Even though the studies concerning the molecular basis of the disease are in progress, the role of VLCFA in the demyelination is still unclear....
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