Advertisement

Journal of Inherited Metabolic Disease

, Volume 15, Issue 2, pp 289–291 | Cite as

Storage by excessive blood cell destruction or due to Niemann-Pick disease type C: An ambiguous case

  • A. Lageron
  • J. -C. Mazière
  • P. Gane
  • D. Goossens
  • C. Roy
Case Report
  • 22 Downloads

Keywords

Public Health Internal Medicine Blood Cell Metabolic Disease Disease 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.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Mazière, C., Mazière, J. C., Mora, L., Lageron, A., Polonovski, C. and Polonovski, J. Alterations in cholesterol metabolism in cultured fibroblasts from patients with Niemann-Pick disease type C.J. Inher. Metab. Dis. 10 (1987) 339–346Google Scholar
  2. Pentchev, P. G., Comly, M. E., Kruth, H. S., Vanier, M. T., Wenger, D. A., Patel, S. and Brady, R. O. A defect in cholesterol esterification in Niemann-Pick disease (type C) patients.Proc. Natl. Acad. Sci. USA 82 (1985) 8247–8251Google Scholar
  3. Zaino, E. C., Rossi, M. B., Pham, T. D. and Azar, H. A. Gaucher's cells in thalassaemia.Blood 38 (1971) 457–462Google Scholar

Copyright information

© SSIEM and Kluwer Academic Publishers 1992

Authors and Affiliations

  • A. Lageron
    • 1
  • J. -C. Mazière
    • 2
  • P. Gane
    • 3
  • D. Goossens
    • 3
  • C. Roy
    • 4
  1. 1.INSERM U.55 184Paris
  2. 2.Biochimie C.H.U. St-AntoineParis
  3. 3.Centre National de Transfusion SanguineParis
  4. 4.Hôpital de la SalpétrièreParisFrance

Personalised recommendations