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Article

Pathomechanisms Underlying X‐Adrenoleukodystrophy: A Three‐Hit Hypothesis

7 Jun 2010

Abstract excerpt

X-adrenoleukodystrophy (X-ALD) is a complex disease where inactivation of ABCD1 gene results in clinically diverse phenotypes, the fatal disorder of cerebral ALD (cALD) or a milder disorder of adrenomyeloneuropathy (AMN). Loss of ABCD1 function results in defective beta oxidation of very long chain fatty acids (VLCFA) resulting in excessive accumulation of VLCFA, the biochemical "hall mark" of X-ALD. At present,...

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PMID: 20626745
DOI: 10.1111/j.1750-3639.2010.00392.x

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