Associated Papers
Expanded Clinical Phenotype and the Role of Untargeted Metabolomics Analysis in Confirming the Diagnosis of Sodium-Dependent Multivitamin Transporter Deficiency.
Walimbe AS et al.
American Journal of Medical Genetics. Part A, 2025
Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders.
Utsuno Y et al.
Journal of Human Genetics, 2024
A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up.
Montomoli M et al.
European Journal of Medical Genetics, 2023
Novel biallelic variants expand the SLC5A6-related phenotypic spectrum.
Holling T et al.
European Journal of Human Genetics : Ejhg, 2022
Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6.
Byrne AB et al.
Npj Genomic Medicine, 2019
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