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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Springer Netherlands
2016
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| 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 |