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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...

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Podrobná bibliografie
Vydáno v:J Pediatr Neurosci
Hlavní autoři: Garg, Meenal, Kulkarni, Shilpa D., Hegde, Anaita U., Shah, Krishnakumar N.
Médium: Artigo
Jazyk:Inglês
Vydáno: Medknow Publications & Media Pvt Ltd 2018
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6413615/
https://ncbi.nlm.nih.gov/pubmed/30937093
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/JPN.JPN_131_17
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