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

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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Bibliographic Details
Main Authors: Silvia Funghini, Rodolfo Tonin, Sabrina Malvagia, Anna Caciotti, Maria Alice Donati, Amelia Morrone, Giancarlo la Marca
Format: Article
Language:English
Published: Elsevier 2020-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Biotinidase deficiency
BTD gene
Newborn screening
Biotinidase deficiency incidence
Multiple carboxylase deficiency
MCD
Online Access:http://www.sciencedirect.com/science/article/pii/S221442692030135X

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http://www.sciencedirect.com/science/article/pii/S221442692030135X

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