Phenotype, genotype, and outcome of 25 Palestinian patients with hereditary tyrosinemia type 1
Background: Tyrosinemia type 1 (hepatorenal tyrosinemia, HT1) is a rare autosomal recessive inborn error of tyrosine metabolism caused by deficiency of the last enzyme in the tyrosine catabolic pathway, fumarylacetoacetate hydrolase (FAH) leading to severe hepatic, renal and peripheral nerve damage...
Guardado en:
| Autores principales: | , , , |
|---|---|
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Elsevier
2021-03-01
|
| Colección: | Metabolism Open |
| Materias: | |
| Acceso en línea: | http://www.sciencedirect.com/science/article/pii/S2589936821000074 |
| Etiquetas: |
Sin Etiquetas, Sea el primero en etiquetar este registro!
|