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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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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2021-05-01
Edice:Frontiers in Pediatrics
Témata:
biotinidase enzymatic activity
genotype-phenotype correlation analysis
biotinidase deficiency incidence
biotinidase deficiency
newborn screening
biotinidase deficiency disorder gene
On-line přístup:https://www.frontiersin.org/articles/10.3389/fped.2021.661416/full
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