AB067. X-linked adrenoleukodystrophy: Phenotype and genotype in Vietnamese patients

BACKGROUND: X-linked adrenoleukodystrophy (X-ALD) is caused by a defect in the gene ABCD1, which maps to Xq28 and codes for a peroxisomal membrane protein that is a member of the ATP-binding cassette transporter superfamily. This disease characterized by progressive neurologic dysfunction, occasiona...

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Библиографические подробности
Опубликовано в: :Ann Transl Med
Главные авторы: Nguyen, Khanh Ngoc, Nguyen, Ha Thu, Can, Ngoc Thi Bich, Bui, Thao Phuong, Nobuyuki, Shimozawa, Vu, Huynh Anh, Do, Mai Thi Thanh, Vu, Dung Chi
Формат: Artigo
Язык:Inglês
Опубликовано: AME Publishing Company 2017
Предметы:
Newborn Screening, Inborn Errors of Metabolism
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5641780/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2017.s067
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