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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Detalles Bibliográficos
Autores principales: Engelen, Marc, Kemp, Stephan, de Visser, Marianne, van Geel, Björn M, Wanders, Ronald JA, Aubourg, Patrick, Poll-The, Bwee Tien
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3503704/
https://www.ncbi.nlm.nih.gov/pubmed/22889154
http://dx.doi.org/10.1186/1750-1172-7-51

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