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Article

Functional genomic analysis unravels a metabolic-inflammatory interplay in adrenoleukodystrophy

17 Nov 2011

Abstract excerpt

X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder characterized by axonopathy and demyelination in the central nervous system and adrenal insufficiency. Main X-ALD phenotypes are: (i) an adult adrenomyeloneuropathy (AMN) with axonopathy in spinal cords, (ii) cerebral AMN with brain demyelination (cAMN) and (iii) a childhood variant, cALD, characterized by severe cerebral demyelination. Loss of...

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PMID: 22095690
DOI: 10.1093/hmg/ddr536

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