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A Case of Brown-Vialetto-Van Laere Syndrome Due To a Novel Mutation in SLC52A3 Gene: Clinical Course and Response to Riboflavin

Brown-Vialetto-Van Laere syndrome is a rare disorder characterized by motor, sensory, and cranial neuronopathies, associated with mutations in SLC52A2 and SLC52A3 genes that code for human riboflavin transporters RFVT2 and RFVT3, respectively. The authors describe the clinical course of a 6-year-old...

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Bibliografski detalji
Izdano u:Child Neurol Open
Glavni autori: Thulasi, Venkatraman, Veerapandiyan, Aravindhan, Pletcher, Beth A., Tong, Chun M., Ming, Xue
Format: Artigo
Jezik:Inglês
Izdano: SAGE Publications 2017
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5570109/
https://ncbi.nlm.nih.gov/pubmed/28856173
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/2329048X17725610
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