High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy

Biotinidase deficiency (BD) is an autosomal recessive inherited disorder in which the enzyme biotinidase is totally or partially defective and the vitamin biotin is not recycled. BD meets the major criteria for a population screening program. Newborn bloodspot screening (NBS) allows early diagnosis...

Descripción completa

Detalles Bibliográficos
Autores principales: Semeraro, Daniela, Verrocchio, Sara, Di Dalmazi, Giulia, Rossi, Claudia, Pieragostino, Damiana, Cicalini, Ilaria, Ferrante, Rossella, Di Michele, Silvia, Stuppia, Liborio, Rizzo, Cristiano, Lepri, Francesca Romana, Novelli, Antonio, Dionisi-Vici, Carlo, De Laurenzi, Vincenzo, Bucci, Ines
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9265859/
https://www.ncbi.nlm.nih.gov/pubmed/35805799
http://dx.doi.org/10.3390/ijerph19138141

Ejemplares similares

Ejemplares similares