AB102. Vietnamese patient with Tyrosinemia type 1: a case report

Tyrosinemia type 1 is an error of metabolism of tyrosine amino acid due to deficiency of the enzyme fumarylacetoacetate hydrolase (FAH). The incidence is 1 in 100,000 to 120,000 births. Symptoms include liver and kidney disturbances and mental retardation. Case report: the 2.5 months old girl admitt...

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Detalles Bibliográficos
Publicado en:Ann Transl Med
Main Authors: Nguyen, Khanh Ngoc, Vu, Dung Chi, Can, Ngoc Thi Bich, Bui, Thao Phuong, Nguyen, Mai Chi, Yamaguchi, Seiji
Formato: Artigo
Idioma:Inglês
Publicado: AME Publishing Company 2015
Assuntos:
Part 4: Oral/poster
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4563519/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3978/j.issn.2305-5839.2015.AB102
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