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Article

X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy.

Journal of neurology, neurosurgery, and psychiatry - 1 Jul 1997

van Geel B M, Assies J, Wanders R J, Barth P G

Abstract excerpt

X linked adrenoleukodystrophy (X-ALD) is an inherited disorder of peroxisomal metabolism, biochemically characterised by accumulation of saturated very long chain fatty acids. Accumulation of these fatty acids is associated with cerebral demyelination, peripheral nerve abnormalities, and adrenocortical and testicular insufficiency. The lowest estimated birth incidence is one per 100,000. At least six phenotypes...

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Identifiers

PMID: 9221959
DOI: 10.1136/jnnp.63.1.4
PMCID: PMC2169642

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