BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia
J. pediatr. (Rio J.); 94 (2), 2018
Abstract Objectives To show the general prevalence and to characterize tetrahydrobiopterin (BH4) deficiencies with hyperphenylalaninemia, identified by the Neonatal Screening Program of the State of Minas Gerais. Methods Descriptive study of patients with BH4 deficiency identified by the Neonatal Scree...