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...

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Detalles Bibliográficos
Autores principales: Cruz-Camino, Héctor, Vazquez-Cantu, Diana Laura, Zea-Rey, Alexandra Vanessa, López-Valdez, Jaime, Jiménez-Lozano, Jorge, Gómez-Gutiérrez, René, Cantú-Reyna, Consuelo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2019
Materias:
Special Issue: Rare Diseases: Advances in Diagnosis, Prevention, Treatment and Management
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7581980/
https://www.ncbi.nlm.nih.gov/pubmed/31342835
http://dx.doi.org/10.1177/0300060519863543

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7581980/
https://www.ncbi.nlm.nih.gov/pubmed/31342835
http://dx.doi.org/10.1177/0300060519863543

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