Carregant...
Tyrosinemia type III in an asymptomatic girl
Tyrosinemia type 3 (HT3) is a rare inborn error of tyrosine metabolism caused by mutations in the HPD gene encoding 4-hydroxyphenyl-pyruvate dioxygenase, which is transmitted in an autosomal recessive trait. The disorder is characterized by tyrosine accumulation in body fluids and massive excretion...
Guardat en:
| Publicat a: | Mol Genet Metab Rep |
|---|---|
| Autors principals: | , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Elsevier
2015
|
| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5471395/ https://ncbi.nlm.nih.gov/pubmed/28649543 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2015.10.004 |
| Etiquetes: |
Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!
|