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...

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Autori principali: Engelen, Marc, Kemp, Stephan, de Visser, Marianne, van Geel, Björn M, Wanders, Ronald JA, Aubourg, Patrick, Poll-The, Bwee Tien
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2012
Soggetti:
Review
Accesso online: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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