High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil

Marilis Tissot Lara,Juliana Gurgel-Giannetti,Marcos José Burle de Aguiar,Roberto Vagner Puglia Ladeira,Nara de Oliveira Carvalho,Dora Méndez del Castillo,Marcos Borato Viana,José Nélio Januário

High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil

2015

Marilis Tissot Lara
Juliana Gurgel-Giannetti
Marcos José Burle de Aguiar
Roberto Vagner Puglia Ladeira
Nara de Oliveira Carvalho
Dora Méndez del Castillo
Marcos Borato Viana
José Nélio Januário

Objective: To assess the incidence of biotinidase deficiency among newborns and their clinical outcome up to one year of age in a large pilot screening study in Minas Gerais, Brazil.

Keywords:

Biotin
Newborn screening
Biotinidase deficiency
Medicine
Pathology
screening study
high incidence
Pediatrics

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