A riboflavin-responsive neuronopathy with unique characteristics: Brown-Vialetto- Van Laere syndrome
Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare disease characterized by progressive axonal neuropathy, optic atrophy, hearing loss, bulbar dysfunction, and respiratory failure associated with mutations in the SLC52A2 and SLC52A3 genes that code for the human riboflavin transporters RFVT2 and R...
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Main Authors: | , |
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Format: | Article |
Language: | English |
Published: |
University of Oran 1
2022-06-01
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Series: | Journal de la Faculté de Médecine d'Oran |
Subjects: | |
Online Access: | https://www.Ajol.Info/index.php/jfmo/article/view/227387 |
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