Skip to main content
SpringerLink
Log in

The natural course of Gaucher disease in The Netherlands: Implications for monitoring of disease manifestations

  • Published:
Journal of Inherited Metabolic Disease

Abstract

This retrospective study in 20 untreated type I Gaucher disease patients shows that in Dutch patients clinical manifestations of Gaucher disease type I are progressive in the majority of patients, children as well as adults. This is in contrast with studies among Jewish patients. Our results emphasize the need for a regular follow-up to enable timely initiation of enzyme therapy.

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

  • Barton NW, Furbish FS, Murray GJ, Garfield M, Brady RO (1990) Therapeutic response to intravenous administration of glucocerebrosidase in a patient with Gaucher disease. Proc Natl Acad Sci USA 87: 1913-1916.

    Google Scholar 

  • Beutler E, Grabowski GA (1995) Gaucher disease. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill, 2641-2670.

    Google Scholar 

  • Beutler E, Demina A, Laubscher K, et al (1995) The clinical course of treated and untreated Gaucher disease. A study of 45 patients. Blood Cells, Mol Dis 21: 86-106.

    Google Scholar 

  • Boot RG, Hollak CE, Verhoek M, et al (1997) Glucocerebrosidase genotype of Gaucher patients in the Netherlands: limitations in prognostic value. Hum Mutat 10: 348-358.

    Google Scholar 

  • Hollak CEM, Aerts JMFG, Goudsmit R, et al (1995) Individualised low-dose alglucerase therapy for type 1 GaucherÏs disease. Lancet 345: 1474-1478.

    Google Scholar 

  • Ida H, Rennert OM, Ito T, Maekawa K, Yoshikatsu E (1998) Type 1 Gaucher disease: phenotypic expression and natural history in Japanese patients. Blood cells, Mol Dis 24: 73-81.

    Google Scholar 

  • Niederau C, Brikhahn A, Ehlen C, Haussinger D (1996) Facts and fiction of modern diagnosis of type 1 Gaucher disease: the German experience. Gaucher Clin Perspect 4: 5-13.

    Google Scholar 

  • Poll RG, van den Hark ACBM (1991) Orthopedic problems in Dutch Gaucher patients. Acta Orthop Scand 62 (supplement 246): 31.

    Google Scholar 

  • Zimran A, Kay A, Gelbart T, et al (1992) Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients. Medicine 71: 337-353.

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Pediatrics, Leiden University Medical Centre, Leiden, The Netherlands

    P. Maaswinkel-Mooij & M. Van Eysden-Plaisier

  2. Department of Internal Medicine and Hematology, Academic Medical Centre, University of Amsterdam, The Netherlands

    C. Hollak

  3. Department of Biostatistics, Academic Medical Centre, University of Amsterdam, The Netherlands

    M. Prins

  4. Department of Biochemistry, Academic Medical Centre, University of Amsterdam, The Netherlands

    H. Aerts

  5. Department of Orthopaedics, Leiden University Medical Centre, Leiden, The Netherlands

    R. Pöll

Authors
  1. P. Maaswinkel-Mooij
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. C. Hollak
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. M. Van Eysden-Plaisier
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. M. Prins
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. H. Aerts
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. R. Pöll
    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

Maaswinkel-Mooij, P., Hollak, C., Van Eysden-Plaisier, M. et al. The natural course of Gaucher disease in The Netherlands: Implications for monitoring of disease manifestations. J Inherit Metab Dis 23, 77–82 (2000). https://doi.org/10.1023/A:1005655031239

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1023/A:1005655031239

Keywords

Search

Navigation