Genetic defect of the sodium‐dependent multivitamin transporter: A treatable disease, mimicking biotinidase deficiency

The sodium‐dependent multivitamin transporter that facilitates the uptake of the water‐soluble vitamins biotin, pantothenic acid, and the vitamin‐like substance lipoate is coded by the SLC5A6 gene. Variants in this gene cause a relatively novel treatable metabolic disorder. Here we describe the seco...

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Detalles Bibliográficos
Autores principales: Schwantje, Marit, de Sain‐van der Velden, Monique, Jans, Judith, van Gassen, Koen, Dorrepaal, Charlotte, Koop, Klaas, Visser, Gepke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6606985/
https://www.ncbi.nlm.nih.gov/pubmed/31392107
http://dx.doi.org/10.1002/jmd2.12040

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6606985/
https://www.ncbi.nlm.nih.gov/pubmed/31392107
http://dx.doi.org/10.1002/jmd2.12040

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