Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations

Tyrosinemia type I (hepatorenal tyrosinemia, HT-1) is an autosomal recessive condition resulting in hepatic failure with comorbidities involving the renal and neurologic systems and long term risks for hepatocellular carcinoma. An effective medical treatment with 2-[2-nitro-4-trifluoromethylbenzoyl]...

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Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: Chinsky, Jeffrey M, Singh, Rani, Ficicioglu, Can, van Karnebeek, Clara D M, Grompe, Markus, Mitchell, Grant, Waisbren, Susan E, Gucsavas-Calikoglu, Muge, Wasserstein, Melissa P, Coakley, Katie, Scott, C Ronald
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2017
Assuntos:
Review
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5729346/
https://ncbi.nlm.nih.gov/pubmed/28771246
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2017.101
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