Hawkinsinuria clinical practice guidelines: a Mexican case report and literature review

Hawkinsinuria is an autosomal dominant disorder of tyrosine metabolism. Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) result in an altered HPD enzyme, causing hawkinsin and tyrosine accumulation. Persistent metabolic acidosis and failure to thrive are common features in patients wi...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:J Int Med Res
Main Authors: Cruz-Camino, Héctor, Vazquez-Cantu, Diana Laura, Zea-Rey, Alexandra Vanessa, López-Valdez, Jaime, Jiménez-Lozano, Jorge, Gómez-Gutiérrez, René, Cantú-Reyna, Consuelo
Formato: Artigo
Idioma:Inglês
Publicado em: SAGE Publications 2019
Assuntos:
Special Issue: Rare Diseases: Advances in Diagnosis, Prevention, Treatment and Management
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7581980/
https://ncbi.nlm.nih.gov/pubmed/31342835
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0300060519863543
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados