Article
Phenotypic spectrum of Salla disease, a free sialic acid storage disorder.
Pediatric neurology - 1 Apr 2002
Varho Tarja T, Alajoki Liisa E, Posti Kristiina M, Korhonen Tapio T, Renlund Martin G, Nyman Samuel R G, Sillanpää Matti L, Aula Pertti P
Abstract excerpt
Salla disease (MIM 269920) represents the mildest phenotype among recessively inherited lysosomal-free sialic acid storage disorders. Although the vast majority of Salla disease patients in Finland share the same founder mutation, R39C in the SLC17A5 gene, there still is a wide clinical variation among mentally retarded, ataxic patients. We evaluated neurologic and neurocognitive findings of Salla disease in a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.