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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| Autors principals: | , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Elsevier
2020-12-01
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| Col·lecció: | Molecular Genetics and Metabolism Reports |
| Matèries: | |
| Accés en línia: | http://www.sciencedirect.com/science/article/pii/S221442692030135X |
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