Associated Papers
Prenatal Brain Abnormalities in Sodium-Dependent Multivitamin Transporter Deficiency.
Ogawa E et al.
American Journal of Medical Genetics. Part A, 2025
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
SLC5A6 Mutations in Axonal Sensorimotor Polyneuropathy Patients Concurrent With Sodium Dependent Multivitamin Transporter Deficiency and Improved Effects by Multivitamin Therapy.
Pi BK et al.
Journal of the Peripheral Nervous System : Jpns, 2025
Biotin Homeostasis and Human Disorders: Recent Findings and Perspectives.
Karachaliou CE et al.
International Journal of Molecular Sciences, 2024
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
Relevance of solute carrier family 5 transporter defects to inherited and acquired human disease.
Cannizzaro M et al.
Journal of Applied Genetics, 2019
Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child.
Subramanian VS et al.
Human Genetics, 2017
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