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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Detalles Bibliográficos
Autores principales: Thulasi, Venkatraman, Veerapandiyan, Aravindhan, Pletcher, Beth A., Tong, Chun M., Ming, Xue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2017
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5570109/
https://www.ncbi.nlm.nih.gov/pubmed/28856173
http://dx.doi.org/10.1177/2329048X17725610

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