IDENTIFICATION OF MUTATIONS IN THE PAH GENE IN PKU PATIENTS IN THE STATE OF MATO GROSSO

OBJECTIVE: To identify phenylalanine hydroxylase (PAH) mutations in patients with phenylketonuria (PKU) from the Newborn Screening Service in Mato Grosso, Midwest Brazil. METHODS: This is a cross-sectional descriptive study. The sample consisted of 19 PKU patients diagnosed by newborn screening. Mol...

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Publicado en:Rev Paul Pediatr
Autores principales: Costa, Roseli Divino, Galera, Bianca Borsatto, Rezende, Bianca Costa, Venâncio, Amanda Cristina, Galera, Marcial Francis
Formato: Artigo
Lenguaje:Inglês
Publicado: Sociedade de Pediatria de São Paulo 2020
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Original Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7025444/
https://ncbi.nlm.nih.gov/pubmed/32074228
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/1984-0462/2020/38/2018351
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