Journal of Inherited Metabolic Disease

, Volume 5, Issue 2, pp 75–76 | Cite as

Cherry-red spot-myoclonus syndrome in a Japanese family

  • T. Kitagawa
  • M. Owada
  • T. Sakiyama
  • O. Nishiya
  • M. Kuriyama
  • T. Miyataka
  • M. Koseki
  • K. Tsurumi
  • M. Wada
  • Y. Uemura
JSIMD Meeting

Keywords

Public Health Internal Medicine Metabolic Disease Japanese Family 

References

  1. Durand, P., Gatti, R., Cavalieri, S., Borrone, C., Tondeur, M., Michalski, J-C. and Strecker, G. Sialidosis (mucolipidosis 1).Helv. Paediatr. Acta 32 (1977) 391–400Google Scholar
  2. Itoyama, Y., Goto, I., Kuroiwa, Y., Takeichi, M., Kawabuchi, M. and Tanaka, Y. Familial juvenile storage disease.Arch. Neurol. 35 (1978) 792–800Google Scholar
  3. Koseki, M. and Tsurumi, K. Structure of a novel sialooligosaccharide from the urine of a patient with mucolipidosis.Tohoku J. Exp. Med. 124 (1978) 361–366Google Scholar
  4. Kuriyama, M., Someya, F., Miyatake, T. and Koseki, M. Partial characterization and studies of fibroblast and leucocyte neuraminidase activities towards sialyloligosaccharides in adult sialidosis and mucolipidosis II and III.Biochim. Biophys. Acta, in pressGoogle Scholar
  5. Lowden, J. A. and O'Brien, J. S. Sialidosis: A review of human neuraminidase deficiency.Am. J. Hum. Genet. 31 (1979) 1–18Google Scholar
  6. Rapin, I., Goldfischer, S., Katzman, R., Ensel, J. Jr. and O'Brien, J. S. The cherry-red spot myoclonus syndrome.Ann. Neurol. 3 (1978) 234–242Google Scholar

Copyright information

© MTP Press Limited 1982

Authors and Affiliations

  • T. Kitagawa
    • 1
  • M. Owada
    • 1
  • T. Sakiyama
    • 1
  • O. Nishiya
    • 1
  • M. Kuriyama
    • 2
  • T. Miyataka
    • 3
  • M. Koseki
    • 4
  • K. Tsurumi
    • 4
  • M. Wada
    • 5
  • Y. Uemura
    • 5
  1. 1.Department of PediatricsNihon University School of MedicineTokyoJapan
  2. 2.Department of Biochemistry and MetabolismThe Tokyo Metropolitan Institute of Medical ScienceTokyoJapan
  3. 3.Department of NeurologyJichi Medical SchoolTochigiJapan
  4. 4.Department of BiochemistryFukushima University School of MedicineFukushimaJapan
  5. 5.Department of OphthalmologyKeio University School of MedicineTokyoJapan

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