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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i: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.
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2016
Fag:
Research Articles
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker