BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia

BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia

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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 Screening...

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Bibliographic Details
Main Authors: Cezar Antonio Abreu de Souza, Michelle Rosa Andrade Alves, Rosangelis del Lama Soares, Viviane de Cássia Kanufre, Valéria de Melo Rodrigues, Rocksane de Carvalho Norton, Ana Lúcia Pimenta Starling, Marcos José Burle de Aguiar
Format: Article
Language:Portuguese
Published: Brazilian Society of Pediatrics 2018-03-01
Series:Jornal de Pediatria (Versão em Português)
Subjects:
Phenylketonuria
Neonatal screening
Intellectual disability
Rare diseases
Online Access:http://www.sciencedirect.com/science/article/pii/S2255553617301015

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http://www.sciencedirect.com/science/article/pii/S2255553617301015

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