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Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience

INTRODUCTION: Riboflavin (vitamin B2) is absorbed in the small intestine by the human riboflavin transporters RFVT1 and RFVT3. A third riboflavin transporter (RFVT2) is expressed in the brain. In 2010 it was demonstrated that mutations in the riboflavin transporter genes SLC52A2 (coding for RFVT2) a...

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Detalles Bibliográficos
Autores principales: Jaeger, Bregje, Bosch, Annet M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4920840/
https://www.ncbi.nlm.nih.gov/pubmed/26973221
http://dx.doi.org/10.1007/s10545-016-9924-2

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