Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma

Tyrosinemia type I (TYRSN1, TYR I) is caused by fumarylacetoacetate hydrolase (FAH) deficiency and affects approximately one in 100,000 individuals worldwide. Pathogenic variants in FAH cause TYRSN1, which induces cirrhosis and can progress to hepatocellular carcinoma (HCC). TYRSN1 is characterized...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Blackburn, Patrick R., Hickey, Raymond D., Nace, Rebecca A., Giama, Nasra H., Kraft, Daniel L., Bordner, Andrew J., Chaiteerakij, Roongruedee, McCormick, Jennifer B., Radulovic, Maja, Graham, Rondell P., Torbenson, Michael S., Tortorelli, Silvia, Scott, C. Ronald, Lindor, Noralane M., Milliner, Dawn S., Oglesbee, Devin, Al‐Qabandi, Wafa'a, Grompe, Markus, Gavrilov, Dimitar K., El‐Youssef, Mounif, Clark, Karl J., Atwal, Paldeep S., Roberts, Lewis R., Klee, Eric W., Ekker, Stephen C.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2016
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5108417/
https://ncbi.nlm.nih.gov/pubmed/27397503
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23047
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