Tyrosinemia type I: an unusual case presentation
Background: Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive inherited metabolic disorder caused by the fumerylacetoacetate hydrolase enzyme deficiency. It is characterized by liver dysfunction and/ or failure, renal tubular dysfunction. If left untreated it may lead to Fanconi syndrome...
Guardat en:
| Autors principals: | , |
|---|---|
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Discover STM Publishing Ltd
2022-06-01
|
| Col·lecció: | Journal of Biochemical and Clinical Genetics |
| Matèries: | |
| Accés en línia: | http://www.ejmanager.com/fulltextpdf.php?mno=91001 |
| Etiquetes: |
Sense etiquetes, Sigues el primer a etiquetar aquest registre!
|