Article
Tyrosinemia: a review.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society - 1 Jan 2000
Russo P A, Mitchell G A, Tanguay R M
Abstract excerpt
Hypertyrosinemia encompasses several entities, of which tyrosinemia type I (or hepatorenal tyrosinemia, HT1) results in the most extensive clinical and pathological manifestations involving mainly the liver, kidney, and peripheral nerves. The clinical findings range from a severe hepatopathy of early infancy to chronic liver disease and rickets in the older child; gradual refinements in the diagnosis and medical...
Topics
- Animals
- Child, Preschool
- Disease Models, Animal
- Humans
- Infant
- Liver
- Mice
- Mutation
- Tyrosinemias
