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Article

The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.

American journal of human genetics - 1 Oct 2000

Aula N, Salomäki P, Timonen R, Verheijen F, Mancini G, Månsson J E, Aula P, Peltonen L

Abstract excerpt

Lysosomal free sialic acid-storage diseases include the allelic disorders Salla disease (SD) and infantile sialic acid-storage disease (ISSD). The defective gene, SLC17A5, coding for the lysosomal free sialic acid transporter was recently isolated by positional cloning. In the present study, we have identified a large number of mutations in SLC17A5 in patients presenting with either Salla disease or the ISSD...

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Identifiers

PMID: 10947946
DOI: 10.1086/303077
PMCID: PMC1287888

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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