AB014. Beta-ketothiolase deficiency: phenotype, genotype and outcome of 48 Vietnamese patients

BACKGROUND: Beta-ketothiolase deficiency (BKT) is an inherited metabolic disease of isoleucine and ketone body caused by mutations in the T2 gene. It is a rare disease with over 100 patients reported worldwide. We aimed to describe phenotypes and genotypes and to evaluate outcomes of Vietnamese pati...

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Detalhes bibliográficos
Publicado no:Ann Transl Med
Main Authors: Nguyen, Khanh Ngoc, Nguyen, Hoan Thi, Can, Ngoc Thi Bich, Do, Mai Thi Thanh, Bui, Thao Phuong, Fukao, Toshiyuki, Vu, Dung Chi
Formato: Artigo
Idioma:Inglês
Publicado em: AME Publishing Company 2017
Assuntos:
Newborn Screening, Inborn Errors of Metabolism
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5641784/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2017.s014
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