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

X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal membrane protein ALDP which is involved in the transmembrane transport of very long-chain fatty acids (VLCFA; ≥C22). A defect in ALDP resul...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Engelen, Marc, Kemp, Stephan, de Visser, Marianne, van Geel, Björn M, Wanders, Ronald JA, Aubourg, Patrick, Poll-The, Bwee Tien
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2012
Pynciau:
Review
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3503704/
https://ncbi.nlm.nih.gov/pubmed/22889154
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-7-51
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