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]...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Genet Med
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2017
Soggetti:
Review
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi