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AB099. Beta ketothiolase deficiency: phenotype and genotype in Vietnam population

BACKGROUND AND OBJECTIVE: Beta ketothiolase (T2) deficiency is rare inherited metabolic disease worldwide. But it is the most common organic aciduria in Vietnam with 35 cases. To describe phenotypes, genotypes of T2 deficiency. METHODS: Descriptive study of 35 patients with T2 deficiency at National...

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Detalhes bibliográficos
Publicado no:Ann Transl Med
Main Authors: Nguyen, Khanh Ngoc, Vu, Dung Chi, Fukao, Toshiyuki, Bui, Thao Phuong, Can, Ngoc Thi Bich, Nguyen, Hoan Thi, Yamaguchi, Seiji
Formato: Artigo
Idioma:Inglês
Publicado em: AME Publishing Company 2015
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4563396/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3978/j.issn.2305-5839.2015.AB099
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