Title | Creator | Description | Identifier | ||
---|---|---|---|---|---|
1 | Optic Neuropathy in Riboflavin Transporter Deficiency (Brown-Vialetto Van Lear syndrome) | Kannan Narayana, Jaime Vengoechea, Michael Silver | Brown-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 |