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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Vydáno v:Ann Transl Med
Hlavní autoři: Nguyen, Khanh Ngoc, Vu, Dung Chi, Fukao, Toshiyuki, Bui, Thao Phuong, Can, Ngoc Thi Bich, Nguyen, Hoan Thi, Yamaguchi, Seiji
Médium: Artigo
Jazyk:Inglês
Vydáno: AME Publishing Company 2015
Témata:
Part 4: Oral/poster
On-line přístup: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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