Neonatal screening for biotinidase deficiency: A 30-year single center experience

We reviewed the outcome of newborn screening for biotinidase deficiency performed at our department since 1987. Among 1,097,894 newborns screened, 461 were recalled, and 18 were identified as affected by complete or partial biotinidase deficiency (incidence 1:61,000, false positive rate 0.04%). The...

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Detalles Bibliográficos
Autores principales: Porta, Francesco, Pagliardini, Veronica, Celestino, Isabella, Pavanello, Enza, Pagliardini, Severo, Guardamagna, Ornella, Ponzone, Alberto, Spada, Marco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5608602/
https://www.ncbi.nlm.nih.gov/pubmed/28971021
http://dx.doi.org/10.1016/j.ymgmr.2017.08.005

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5608602/
https://www.ncbi.nlm.nih.gov/pubmed/28971021
http://dx.doi.org/10.1016/j.ymgmr.2017.08.005

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