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Original Article

Laboratory detection of aspartylglycosaminuria

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Pages 7-11 | Published online: 17 Mar 2010

References

  • Pollitt R J, Jenner F A, Merskey H. Aspartylglycosa-minuria: an inborn error of metabolism associated with mental defect. Lancet 1968; ii: 253–5
  • Beaudet A L. Disorders of glycoprotein degradation: mannosidosis, fucosidosis, sialidosis, and aspartyl-glycosaminuria. The metabolic basis of inherited disease, 5th ed., J B Stanbury, J B Wyngaarden, D S Fredrickson, J L Goldstein, M S Brown. McGraw-Hill, New York 1983; 788–802
  • Aula P, Autio S, Raivio K O, Rapola J. Aspartylgluco-saminuria. Genetic errors of glycoprotein metabolism, P Durand, J S O'Brien. Edi. Ermes, Milano 1982; 123–52
  • Palo J, Savolainen H. Thin-layer chromatographic demonstration of aspartylglycosylamine and a novel acidic carbohydrate in human tissues. J Chromatogr 1972; 65: 447–50
  • Maury P. Quantitative determination of 4-N-2-ace-tamido-2-deoxy-4bT-D-glucopyranosyl-L-asparagine in the urine of patients with aspartylglycosaminuria by gas-liquid chromatography. J Lab Clin Med 1979; 93: 718–23
  • Maury C PJ. Detection of aspartylglycosaminuria by gas-liquid chromatography. Clin Chem 1981; 27: 2058–60
  • Aula P, Raivio K, Autio S. Enzymatic diagnosis and carrier detection of aspartylglycosaminuria using blood samples. Pediat Res 1976; 10: 625–9
  • Makino M, Kojima T, Yamashina I. Enzymatic cleavage of glycopeptides. Biochem Biophys Res Commun 1966; 24: 961–6
  • Mononen T, Parviainen M, Penttilä I, Mononen I. Liquid-chromatographic detection of aspartylglycosaminuria. Clin Chem 1986; 32: 501–2
  • Aula P, Rapola J, von Koskull H, Ämmälä P. Prenatal diagnosis and fetal pathology of aspartylglycosaminuria. Am J Med Genet 1984; 19: 359–67
  • Mononen T. Aspartylglucosamine excretion in heterozygous carriers of aspartylglucosaminuria. Scand J Clin Lab Invest 1988; 48(Suppl.190)179
  • Mononen I, Kaartinen V, Mononen T. Amniotic fluid glycoasparagines in fetal aspartylglycosaminuria. J Inher Metab Dis 1988; 11: 194–8
  • Mononen I, Kaartinen V, Mononen T. Glycoasparagines in amniotic fluid in fetal aspartylglycosaminuria. Scand J Clin Lab Invest 1988; 48(Suppl. 190)178
  • Hakomori S-I. A rapid permethylation of glycoli-pid and polysaccharide catalyzed by methylsulfinyl carbanion in dimethyl sulfoxide. J Biochem 1964; 55: 205–8
  • Mononen I. Quantitative analysis, by gas-liquid chromatography and mass fragmentography, of monosaccharides after methonolysis and deamina-tion. Carbohydr Res 1981; 88: 39–50
  • Warner T G, Robertson A D, Mock A K, Johnson W G, O'Brien J S. Prenatal diagnosis of GM1 gangliosidosis by detection of galactosyl-oligosaccharides in amniotic fluid with high-performance liquid chromatography. Am J Hum Genet 1983; 35: 1034–41
  • Mossman J, Patric D. Prenatal diagnosis of mucopolysaccharidosis by two-dimensional electrophoresis of amniotic fluid glycosaminoglycans. Prenat Diagn 1982; 2: 169–76

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