AB102. A pilot newborn screening program for X-linked adrenoleukodystrophy

BACKGROUND: X-linked adrenoleukodystrophy (X-ALD) is a rare inherited metabolic disorder and is caused by mutations in the ABCD1 gene encoding a peroxisomal ABC transporter ALDP. X-ALD can show a variety of phenotypic manifestations from severe childhood cerebral ALD to adult-onset adrenomyeloneurop...

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Detalles Bibliográficos
Publicado en:Ann Transl Med
Autores principales: Chen, Pinwen, Wang, Shiao-Fang, Chen, Li-Hsin, Tseng, Yu-Shan, Chien, Yin-Hsiu
Formato: Artigo
Lenguaje:Inglês
Publicado: AME Publishing Company 2017
Materias:
Newborn Screening, Inborn Errors of Metabolism
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5641734/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2017.s102
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