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...

Full beskrivning

Sparad:
Bibliografiska uppgifter
I publikationen:JIMD Rep
Huvudupphovsmän: Schwantje, Marit, de Sain‐van der Velden, Monique, Jans, Judith, van Gassen, Koen, Dorrepaal, Charlotte, Koop, Klaas, Visser, Gepke
Materialtyp: Artigo
Språk:Inglês
Publicerad: John Wiley & Sons, Inc. 2019
Ämnen:
Case Reports
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6606985/
https://ncbi.nlm.nih.gov/pubmed/31392107
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12040
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk