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Article

Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.

Neurogenetics - 1 Dec 2005

Biancheri R, Rossi A, Verbeek H A, Schot R, Corsolini F, Assereto S, Mancini G M S, Verheijen F W, Minetti C, Filocamo M

Abstract excerpt

Lysosomal free sialic acid storage diseases are recessively inherited allelic neurodegenerative disorders that include Salla disease (SD) and infantile sialic acid storage disease (ISSD) caused by mutations in the SLC17A5 gene encoding for a lysosomal membrane protein, sialin, transporting sialic acid from lysosomes. The classical form of SD, enriched in the Finnish population, is related to the p.R39C designed...

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PMID: 16170568
DOI: 10.1007/s10048-005-0011-3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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