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...

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Detalles Bibliográficos
Publicado en:Mol Genet Metab Rep
Main Authors: Szymanska, Edyta, Sredzinska, Malgorzata, Ciara, Elzbieta, Piekutowska-Abramczuk, Dorota, Ploski, Rafal, Rokicki, Dariusz, Tylki-Szymanska, Anna
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2015
Assuntos:
Case Report
Acceso en liña: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
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