Associated Papers
Prenatal Brain Abnormalities in Sodium-Dependent Multivitamin Transporter Deficiency.
Ogawa E et al.
American Journal of Medical Genetics. Part A, 2025
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
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
35217562 (PubMed )
Supplement: supp_mcs.a006185_Supplemental_Figure_S1.docx
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