We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Free sialic acid storage (Salla) disease in Sweden.
- Authors
Erikson, A; Aula, N; Aula, P; Månsson, J E
- Abstract
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 early psychomotor retardation, ataxia and speech problems. One-third of the patients had epilepsy.
- Publication
Acta paediatrica (Oslo, Norway : 1992), 2002, Vol 91, Issue 12, p1324
- ISSN
0803-5253
- Publication type
Journal Article
- DOI
10.1080/08035250216110