Infantile sialic acid storage disease: Two unrelated inuit cases homozygous for a common novel SLC17A5 mutation

• Main Authors: Lines, Matthew A., Rupar, C. Anthony, Rip, Jack W., Baskin, Berivan, Ray, Peter N., Hegele, Robert A., Grynspan, David, Michaud, Jean, Geraghty, Michael T.
• Format: Article in Journal/Newspaper
• Language: unknown
• Published: Scholarship@Western 2014
• Subjects: Fetal hydrops; Lysosomal storage disease; Neuraminidase activity; Sialic acid; SLC17A5 Mutation; Arctic; Salla; inuit
• Online Access: https://ir.lib.uwo.ca/paedpub/2079; https://doi.org/10.1007/8904_2013_247; https://ir.lib.uwo.ca/context/paedpub/article/3087/type/native/viewcontent/978_3_319_03461_4.pdf

Infantile sialic acid storage disease (ISSD) is a lysosomal storage disease characterized by accumulation of covalently unlinked (free) sialic acid in multiple tissues. ISSD and Salla disease (a predominantly neurological disorder) are allelic disorders caused by recessive mutations of a lysosomal a...