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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Autori principali:	Silvia Funghini, Rodolfo Tonin, Sabrina Malvagia, Anna Caciotti, Maria Alice Donati, Amelia Morrone, Giancarlo la Marca
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Elsevier 2020-12-01
Serie:	Molecular Genetics and Metabolism Reports
Soggetti:	Biotinidase deficiency BTD gene Newborn screening Biotinidase deficiency incidence Multiple carboxylase deficiency MCD
Accesso online:	http://www.sciencedirect.com/science/article/pii/S221442692030135X
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