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X‐linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies

Adrenoleukodystrophy (ALD) is a rare X‐linked disease caused by a mutation of the peroxisomal ABCD1 gene. This review summarizes our current understanding of the pathogenic cell‐ and tissue‐specific roles of lipid species in the context of experimental therapeutic strategies and provides an overview...

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Detalles Bibliográficos
Autores principales:	Turk, Bela R., Theda, Christiane, Fatemi, Ali, Moser, Ann B.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7041623/ https://www.ncbi.nlm.nih.gov/pubmed/31909500 http://dx.doi.org/10.1002/jdn.10003

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