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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Dettagli Bibliografici
Pubblicato in:Front Pediatr
Autori principali: Maguolo, Alice, Rodella, Giulia, Dianin, Alice, Monge, Irene, Messina, Martina, Rigotti, Erika, Pellegrini, Francesca, Molinaro, Grazia, Lupi, Fiorenzo, Pasini, Andrea, Campostrini, Natascia, Ion Popa, Florina, Teofoli, Francesca, Vincenzi, Monica, Camilot, Marta, Piacentini, Giorgio, Bordugo, Andrea
Natura: Artigo
Lingua:Inglês
Pubblicazione: Frontiers Media S.A. 2021
Soggetti:
Pediatrics
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC8200396/
https://ncbi.nlm.nih.gov/pubmed/34136440
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2021.661416
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