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Case Reports
. 1987;10(2):97-102.
doi: 10.1007/BF01800030.

Sialuria: a second case

B Wilcken  1 , N Don, R Greenaway, J Hammond, L Sosula
Affiliations
Case Reports

Sialuria: a second case

B Wilcken et al. J Inherit Metab Dis. 1987.

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.

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References

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