Sialuria: a second case
- 14 July 1986
- journal article
- conference paper
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 10 (2) , 97-102
- https://doi.org/10.1007/bf01800030
Abstract
A case of sialuria is described in a girl who presented in the neonatal period with hepatosplenomegaly, and who has moderate developmental delay at the age of 2 years. There was massive urinary excretion of free sialic acid (N-acetylneuraminic acid). The clinical, biochemical and ultramicroscopical features were distinct from those described in Salla disease and in infantile sialic acid storage disorder.Keywords
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