Blackburn, Patrick R

Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma. [electronic resource] - Human mutation 10 2016 - 1097-105 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

1098-1004

10.1002/humu.23047 doi


Adolescent
Animals
Carcinoma, Hepatocellular--etiology
Catalytic Domain
Cell Line, Tumor
Child
Child, Preschool
Disease Models, Animal
Female
Heptanoates--metabolism
Humans
Hydrolases--chemistry
Infant
Liver Cirrhosis--complications
Liver Neoplasms--etiology
Male
Mice
Mutation, Missense
Pedigree
Sequence Analysis, DNA
Tyrosine--metabolism
Tyrosinemias--complications