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Riboflavin Treatment in Genetically Proven Brown–Vialetto–Van Laere Syndrome
Brown–Vialetto–Van Laere (BVVL) syndrome is a rare motor neuron disorder of childhood, which forms a continuous spectrum with Fazio–Londe syndrome. It is an autosomal-recessive inherited disease caused by mutations in intestinal riboflavin transporter genes. We describe a child with genetically prov...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6413615/ https://www.ncbi.nlm.nih.gov/pubmed/30937093 http://dx.doi.org/10.4103/JPN.JPN_131_17 |