The sodium-dependent multivitamin transporter (hSMVT) encoded by the SLC5A6 gene is required for the intestinal absorption of biotin, pantothenic acid and lipoate, three micronutrients essential for normal growth and development
A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up / Martino Montomoli , Annalisa Vetro , Flavia Tubili , Maria Alice Donati , Marta Daniotti , Francesca Pochiero , Francesca Rivieri , Salvatore Girlando , Renzo Guerrini. - In: EUROPEAN JOURNAL OF MEDICAL GENETICS. - ISSN 1769-7212. - ELETTRONICO. - 66:(2023), pp. 0-0. [10.1016/j.ejmg.2023.104808]
A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up
Martino Montomoli;Annalisa Vetro;Flavia Tubili;Maria Alice Donati;Marta Daniotti;Renzo Guerrini
2023
Abstract
The sodium-dependent multivitamin transporter (hSMVT) encoded by the SLC5A6 gene is required for the intestinal absorption of biotin, pantothenic acid and lipoate, three micronutrients essential for normal growth and development
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