Article
Mutational analyses of Taiwanese kindred with X-linked adrenoleukodystrophy.
Pediatric neurology - 1 Oct 2006
Chiu Hou-Chang, Liang Jao-Shwann, Wang Jinn-Shyan, Lu Jyh-Feng
Abstract excerpt
X-linked adrenoleukodystrophy is a neurodegenerative disorder with highly variable clinical presentation, including the childhood cerebral form, adult form adrenomyeloneuropathy, and Addison disease. The biochemical hallmark of the disorder is the accumulation of saturated very long chain fatty a...
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