Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy

Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy

Introduction: Biotinidase deficiency (BD) is an autosomal recessive disease causing a defect in the biotin-releasing enzyme. Newborn screening (NBS) allows early diagnosis and treatment, ensuring excellent prognosis. The aim of this study was to describe our experience in the diagnosis, treatment, a...

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Bibliographic Details
Main Authors: Alice Maguolo, Giulia Rodella, Alice Dianin, Irene Monge, Martina Messina, Erika Rigotti, Francesca Pellegrini, Grazia Molinaro, Fiorenzo Lupi, Andrea Pasini, Natascia Campostrini, Florina Ion Popa, Francesca Teofoli, Monica Vincenzi, Marta Camilot, Giorgio Piacentini, Andrea Bordugo
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-05-01
Series:Frontiers in Pediatrics
Subjects:
biotinidase enzymatic activity
genotype-phenotype correlation analysis
biotinidase deficiency incidence
biotinidase deficiency
newborn screening
biotinidase deficiency disorder gene
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2021.661416/full

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https://www.frontiersin.org/articles/10.3389/fped.2021.661416/full

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