Skip to main content
SpringerLink
Log in

Niemann-Pick disease type B in an Irish family

  • Published:
Irish Journal of Medical Science Aims and scope Submit manuscript

Summary

A patient with Niemann-Pick disease type B is presented. The diagnosis was confirmed by sphingomyelinase assay. The investigation of the patient and his family are described.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Belchelz, P. E., Braidman, I. P., Crawley, J. C. W. and Gregoriadis, G. 1977. Treatment of Gaucher's disease with liposome-entrapped glucocerebroside: B-glucosidase. Lancet ii, 116–117.

    Article  Google Scholar 

  • Besley, G. T. N. 1977. Sphingomyelinase defect in Niemann-Pick disease type C fibroblasts. FEBS Letters 80, 71–74.

    Article  PubMed  CAS  Google Scholar 

  • Besley, G. T. N., Hoogeboom, A. J. M., Hoogeven, A., Kleijer, W. J. and Galjaard, H. 1980. Somatic cell hybridization studies showing different gene mutations in Niemann-Pick variants. Human Genet. 54, 409–412.

    Article  CAS  Google Scholar 

  • Brady, R. O. 1978a. Sphingomyelin Lipidosis: Niemann-Pick Disease. In: The Metabolic Basis of Inherited Disease. Eds. J. B. Stanbury, J. B. Wyngaarden D. S. Fredrickson. pp. 718–730. New York, McGraw-Hill.

    Google Scholar 

  • Brady, R. O. 1978b. Glucosyl Ceramide Lipidosis: Gaucher's Disease. In: The Metabolic Basis of Inherited Disease. Eds. J. B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson. pp. 731–746. New York. McGraw-Hill.

    Google Scholar 

  • Niemann, A. 1914. Ein unbekanntes Krannheitsbild. Jahrb. Kinderheilkd 79, 1.

    Google Scholar 

  • Pentchev, P. G., Brady, R. O., Hibbert, S. R., Gal, A. E. and Shapiro, D. 1973. Isolation and characterization of glucocerebrosidase from human placental tissue. J. Biol. Chem. 248, 5256–5261.

    PubMed  CAS  Google Scholar 

  • Schneider, E. L., Pentchev, P. G., Hibbert, S. R., Sawitzky, A. and Brady, R. O. 1978. A new form of Niemann-Pick disease characterised by temperature-labile sphingomyelinase. J. Med. Genet. 15, 370–374.

    Article  PubMed  CAS  Google Scholar 

  • Yamaguchi, S. and Suzuki, K. 1977. Sphingomyelinase isoenzymes of human tissues: A hypothesis on enzymatic differentiation of the neuropathic and non-neuropathic forms of Niemann-Pick disease. Biochem. Biophys. Res. Commun. 77, 999–1003.

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Haematology, National Children's Hospital and Trinity College, Dublin

    Emer Lawlor, P. Pierce & I. J. Temperley

  2. Department of Pathology, Royal Hospital for Sick Children, Edinburgh

    G. T. N. Besley

Authors
  1. Emer Lawlor
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. G. T. N. Besley
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. P. Pierce
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. I. J. Temperley
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Lawlor, E., Besley, G.T.N., Pierce, P. et al. Niemann-Pick disease type B in an Irish family. I.J.M.S. 150, 182–186 (1981). https://doi.org/10.1007/BF02938230

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF02938230

Keywords

Search

Navigation