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 developmentI documenti in FLORE sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.