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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Autors principals: Engelen, Marc, Kemp, Stephan, de Visser, Marianne, van Geel, Björn M, Wanders, Ronald JA, Aubourg, Patrick, Poll-The, Bwee Tien
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2012
Matèries:
Review
Accés en línia: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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