Article
Adrenoleukodystrophy in female heterozygotes: underrecognized and undertreated.
Molecular genetics and metabolism - 1 Feb 2012
Jangouk Parastoo, Zackowski Kathleen M, Naidu Sakkubai, Raymond Gerald V
Abstract excerpt
X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disease resulting from mutations in the gene ABCD1 and alterations in peroxisomal beta-oxidation of long chain fatty acids. As it has been frequently discussed, it manifests a wide range of phenotypes in male, with progressive myelopathy being the most common. Even though the gene is localized to the X-chromosome and a region subject to X-inactivation,...
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