Riboflavin 1 Transporter Deficiency: Novel SLC52A1 Variants and Expansion of the Phenotypic Spectrum

Riboflavin transporter 1 (RFVT1) deficiency is an ultrarare metabolic disorder due to autosomal dominant pathogenic variants in SLC52A1. The RFVT1 protein is mainly expressed in the placenta and intestine. To our knowledge, only five cases of RFVT1 deficiency from three families have been reported s...

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Detalles Bibliográficos
Autores principales: Grünert, Sarah C., Ziagaki, Athanasia, Heinen, André, Schumann, Anke, Tucci, Sara, Spiekerkoetter, Ute, Schmidts, Miriam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10378786/
https://www.ncbi.nlm.nih.gov/pubmed/37510312
http://dx.doi.org/10.3390/genes14071408

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10378786/
https://www.ncbi.nlm.nih.gov/pubmed/37510312
http://dx.doi.org/10.3390/genes14071408

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