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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | J Pediatr Neurosci |
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| Κύριοι συγγραφείς: | , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Medknow Publications & Media Pvt Ltd
2018
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| Θέματα: | |
| Διαθέσιμο Online: | 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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