Article
Functional characterization of the adrenoleukodystrophy protein (ALDP) and disease pathogenesis.
Endocrine research - 1 Nov 2002
Gärtner J, Dehmel T, Klusmann A, Roerig P
Abstract excerpt
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder characterized by abnormal accumulation of saturated very long chain fatty acids in tissues and body fluids with predominance in brain white matter and adrenal cortex. The clinical phenotype is highly variable ranging from the severe childhood cerebral form to asymptomatic persons. The responsible ALD gene encodes the...
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