High frequency of biotinidase deficiency in Italian population identified by newborn screening

The biotinidase (BTD) enzyme is essential for recycling biotin, a water-soluble B-complex vitamin that is the coenzyme of four carboxylases involved in fatty acid synthesis, amino acid catabolism and gluconeogenesis. If untreated, total or partial BTD deficiencies lead to an autosomal recessive inhe...

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Detalles Bibliográficos
Autores principales: Funghini, Silvia, Tonin, Rodolfo, Malvagia, Sabrina, Caciotti, Anna, Donati, Maria Alice, Morrone, Amelia, la Marca, Giancarlo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7719957/
https://www.ncbi.nlm.nih.gov/pubmed/33312878
http://dx.doi.org/10.1016/j.ymgmr.2020.100689

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7719957/
https://www.ncbi.nlm.nih.gov/pubmed/33312878
http://dx.doi.org/10.1016/j.ymgmr.2020.100689

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