Associated Papers
Prenatal Brain Abnormalities in Sodium-Dependent Multivitamin Transporter Deficiency.
Ogawa E et al.
American Journal of Medical Genetics. Part A, 2025
Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.
Koç Yekedüz M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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
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
Recurrent "outsider" intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb.
Mansour-Hendili L et al.
Frontiers in 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
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