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Journal of Inherited Metabolic Disease

, Volume 17, Issue 1, pp 118–119 | Cite as

Sialidosis type I: first report in the Czech population of two siblings with cherry-red spot myoclonus syndrome but without sialyloligosacchariduria

  • J. Ledvinová
  • H. Poupětová
  • M. Elleder
  • J. Tichý
  • V. Pěničková
  • K. Harzer
Case Report

Keywords

Public Health Internal Medicine Czech Population Myoclonus Syndrome Sialidosis Type 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. Beaudet AL, Thomas GH (1989) Disorder of glycoprotein degradation. In Scriver CD, Beaudet AL, Sly WS, Valle D, eds.The Metabolic Basis of Inherited Disease, 6th edn. New York: McGraw-Hill, 1603–1621.Google Scholar
  2. Harzer K, Cantz M, Sewell AC et al (1986) Normomorphic sialidosis in two female adults with severe neurologic disease and without sialyl oligosacchariduria.Hum Genet 74: 209–221.Google Scholar
  3. Paton BC, Schmid B, Kustermann-Kuhn B, Poulos A, Harzer K (1992) Additional biochemical findings in a patient and fetal sibling with a genetic defect in the sphingolipid activator protein (SAP) precursor, prosaposin.Biochem J 285: 481–488.Google Scholar
  4. Warner TG, O'Brien JS (1979) Synthesis of 2′-(4-methylumbelliferyl)-α-d-N-acetylneuraminic acid and detection of skin fibroblast neuraminidase in normal human and sialidosis.Biochemistry 18: 2783–2786.Google Scholar

Copyright information

© SSIEM and Kluwer Academic Publishers 1994

Authors and Affiliations

  • J. Ledvinová
    • 1
  • H. Poupětová
    • 1
  • M. Elleder
    • 2
  • J. Tichý
    • 3
  • V. Pěničková
    • 4
  • K. Harzer
    • 5
  1. 1.Center for Inherited Metabolic DiseasesCharles UniversityPrague 2Czech Republic
  2. 2.First Institute of PathologyCharles UniversityPrague 2Czech Republic
  3. 3.Neurological Clinic, First Faculty of MedicineCharles UniversityPrague 2Czech Republic
  4. 4.Neurological ClinicPalacky UniversityOlomoucCzech Republic
  5. 5.Institut für HirnforschungUniversity of TübingenGermany

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