A mild case of sodium-dependent multivitamin transporter (SMVT) deficiency illustrating the importance of treatment response in variant classification

Sodium-dependent multivitamin transporter (SMVT) deficiency is a recently described multivitamin-responsive inherited metabolic disorder (IMD) of which the phenotypic spectrum and response to treatment remains to be elucidated. So far, four pediatric patients have been described in three case report...

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Detalles Bibliográficos
Autores principales: Hauth, Ingeborg, Waterham, Hans R., Wanders, Ronald J.A., van der Crabben, Saskia N., van Karnebeek, Clara D.M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8958925/
https://www.ncbi.nlm.nih.gov/pubmed/35217562
http://dx.doi.org/10.1101/mcs.a006185

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8958925/
https://www.ncbi.nlm.nih.gov/pubmed/35217562
http://dx.doi.org/10.1101/mcs.a006185

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