Associated Papers
Prenatal Brain Abnormalities in Sodium-Dependent Multivitamin Transporter Deficiency.
Ogawa E 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
Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy.
Riley LG et al.
European Journal of Human Genetics : Ejhg, 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
Novel biallelic variants expand the SLC5A6-related phenotypic spectrum.
Holling T et al.
European Journal of Human Genetics : Ejhg, 2022
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