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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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Bibliographische Detailangaben
Veröffentlicht in:Ann Transl Med
Hauptverfasser: Nguyen, Khanh Ngoc, Vu, Dung Chi, Fukao, Toshiyuki, Bui, Thao Phuong, Can, Ngoc Thi Bich, Nguyen, Hoan Thi, Yamaguchi, Seiji
Format: Artigo
Sprache:Inglês
Veröffentlicht: AME Publishing Company 2015
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Online Zugang: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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