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

• Κύριοι συγγραφείς: Roseli Divino Costa (Συγγραφέας), Bianca Borsatto Galera (Συγγραφέας), Bianca Costa Rezende (Συγγραφέας), Amanda Cristina Venâncio (Συγγραφέας), Marcial Francis Galera (Συγγραφέας)
• Μορφή: Βιβλίο
• Έκδοση: Sociedade de Pediatria de São Paulo, 2020-02-01T00:00:00Z.
• Θέματα: article
• Διαθέσιμο Online: 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...