Sialuria: a second case
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- Wilcken, B., Don, N., Greenaway, R. et al. J Inherit Metab Dis (1987) 10: 97. doi:10.1007/BF01800030
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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.