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  • Sialuria: a second case.
  • 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 excret...
  • Rating:   1 Star      Views: ()     Pages: ()     Uploaded: 1987-1-1
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  • Sialuria a follow-up report
  • Sialuria: a follow-up report. Don NA, Wilcken B. St. George Hospital, Oliver Latham Laboratory, Camperdown, Sydney, Australia. PMID: 1779656 [PubMed - indexed for MEDLINE]
  • Rating:   1 Star      Views: (1013)     Pages: ()     Uploaded: 20-01-09
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  • Clinical course and biochemistry of sialuria.
  • Sialuria is a rare inborn error of metabolism in which excessive free sialic acid (N-acetylneuraminic acid, NeuAc) is synthesized. A defect in the feedback inhibition of UDP-N-acetylglucosamine (UDP-G...
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  • Identification of the metabolic defect in sialuria.
  • Sialuria is a rare inborn error of metabolism, the hallmarks of which are moderate developmental retardation, coarse facial features, and an enormous amount of free N-acetylneuraminic acid (sialic aci...
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