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J Inherit Metab Dis. 1987;10(2):97-102.

Sialuria: a second case.

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1
Oliver Latham Laboratory, NSW Department of Health, Sydney, Australia.

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.

PMID:
2443758
[Indexed for MEDLINE]
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