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
Sodium-dependent multivitamin transporter defects: a rare cause of recurrent vomiting and faltering growth.
Rupasinghe K et al.
Frontline Gastroenterology, 2023
Novel biallelic variants expand the SLC5A6-related phenotypic spectrum.
Holling T et al.
European Journal of Human Genetics : Ejhg, 2022
A mild case of sodium-dependent multivitamin transporter (SMVT) deficiency illustrating the importance of treatment response in variant classification.
Hauth I et al.
Cold Spring Harbor Molecular Case Studies, 2022
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