X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management

<p>Abstract</p> <p>X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The disease is caused by mutations in the <it>ABCD1</it> gene that encodes the peroxisomal membrane protein ALDP which is involved in the transmembrane transport of very lo...

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Bibliographic Details
Main Authors: Engelen Marc, Kemp Stephan, de Visser Marianne, van Geel Björn M, Wanders Ronald JA, Aubourg Patrick, Poll-The Bwee
Format: Article
Language:English
Published: BMC 2012-08-01
Series:Orphanet Journal of Rare Diseases
Subjects:
X-linked adrenoleukodystrophy
X-ALD
Very long-chain fatty acids
VLCFA
ABCD1
Peroxisome
Myelin
Leukodystrophy
Demyelinating disorder
Addison’s disease
Myelopathy
Online Access:http://www.ojrd.com/content/7/1/51

Internet

http://www.ojrd.com/content/7/1/51

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