You've searched: Collection: ehsl_novel_nam
1 - 25 of 1
Number of results to display per page
TitleCreatorDescriptionIdentifier
1 Optic Neuropathy in Riboflavin Transporter Deficiency (Brown-Vialetto Van Lear syndrome)Kannan Narayana, Jaime Vengoechea, Michael SilverBrown-Vialetto-Van-Laere syndrome (BVVL), is a rare autosomal recessive degenerative disorder, associated with mutations in the SLC52A2 and SLC52A3 genes, thought to be involved in the transport of riboflavin. Manifestations include motor neuronopathy (proximal / distal limb weakness, severe distal ...20180304_nanos_posters_073
1 - 25 of 1