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

• Main Authors: Alice Maguolo (Author), Giulia Rodella (Author), Alice Dianin (Author), Irene Monge (Author), Martina Messina (Author), Erika Rigotti (Author), Francesca Pellegrini (Author), Grazia Molinaro (Author), Fiorenzo Lupi (Author), Andrea Pasini (Author), Natascia Campostrini (Author), Florina Ion Popa (Author), Francesca Teofoli (Author), Monica Vincenzi (Author), Marta Camilot (Author), Giorgio Piacentini (Author), Andrea Bordugo (Author)
• Format: Book
• Published: Frontiers Media S.A., 2021-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...