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

• Main Authors: Roseli Divino Costa (Author), Bianca Borsatto Galera (Author), Bianca Costa Rezende (Author), Amanda Cristina Venâncio (Author), Marcial Francis Galera (Author)
• Format: Book
• Published: Sociedade de Pediatria de São Paulo, 2020-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

ABSTRACT 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 scree...