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Article

Free sialic acid storage (Salla) disease in Sweden.

Acta paediatrica (Oslo, Norway : 1992) - 1 Jan 2002

Erikson A, Aula N, Aula P, Månsson J E

Abstract excerpt

UNLABELLED: The first 23 patients diagnosed with Salla disease in Sweden are presented. A high incidence of the "Finnish" R39C mutation, together with genealogical data, indicates that a large proportion of the mutations are of Finnish origin. All patients had pathologically high levels of free sialic acid in urine and in fibroblasts. The clinical picture confirms what has already been reported from Finland, with...

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PMID: 12578289
DOI: 10.1080/08035250216110

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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