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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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| Publicat a: | Ann Transl Med |
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| Autors principals: | , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
AME Publishing Company
2015
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| Matèries: | |
| Accés en línia: | 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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