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Increased urinary excretion of free N-acetylneuraminic acid in thirteen patients with Salla disease

Renlund, Martin; Chester, Alan LU ; Lundblad, Arne; Aula, Pertti; Raivio, Kari O; Autio, Seppo and Koskela, Sirkka-Liisa (1979) In European Journal of Biochemistry 101(1). p.245-250
Abstract
Thirteen severely retarded patients with Salla disease, a new type of lysosomal storage disorder, have been studied biochemically. All patients excreted approximately ten times more free sialic acid than normal individuals. The isolated sialic acid was characterized by paper chromatography, thin-layer chromatography, optical rotation, 13C and 1H nuclear magnetic resonance spectroscopy, and mass spectrometry of its permethylated derivative. The results clearly indicated that the excreted sialic acid was identical to N-acetylneuraminic acid. The main sialylated trisaccharide present in the urine of the patients was identified as 3'-sialyllactose by sugar and methylation analysis. The excreted amounts were found to be within normal range.
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
European Journal of Biochemistry
volume
101
issue
1
pages
245 - 250
publisher
Wiley-Blackwell
external identifiers
  • pmid:510308
  • scopus:0018572841
ISSN
0014-2956
DOI
10.1111/j.1432-1033.1979.00245.pp.x
language
English
LU publication?
yes
id
4bc46c2e-9768-4ccc-819f-2d6e0a6499fd (old id 1102708)
date added to LUP
2008-08-14 09:38:45
date last changed
2017-09-03 04:30:09
@article{4bc46c2e-9768-4ccc-819f-2d6e0a6499fd,
  abstract     = {Thirteen severely retarded patients with Salla disease, a new type of lysosomal storage disorder, have been studied biochemically. All patients excreted approximately ten times more free sialic acid than normal individuals. The isolated sialic acid was characterized by paper chromatography, thin-layer chromatography, optical rotation, 13C and 1H nuclear magnetic resonance spectroscopy, and mass spectrometry of its permethylated derivative. The results clearly indicated that the excreted sialic acid was identical to N-acetylneuraminic acid. The main sialylated trisaccharide present in the urine of the patients was identified as 3'-sialyllactose by sugar and methylation analysis. The excreted amounts were found to be within normal range.},
  author       = {Renlund, Martin and Chester, Alan and Lundblad, Arne and Aula, Pertti and Raivio, Kari O and Autio, Seppo and Koskela, Sirkka-Liisa},
  issn         = {0014-2956},
  language     = {eng},
  number       = {1},
  pages        = {245--250},
  publisher    = {Wiley-Blackwell},
  series       = {European Journal of Biochemistry},
  title        = {Increased urinary excretion of free N-acetylneuraminic acid in thirteen patients with Salla disease},
  url          = {http://dx.doi.org/10.1111/j.1432-1033.1979.00245.pp.x},
  volume       = {101},
  year         = {1979},
}