Skip to main content
SpringerLink
Log in

Response to Torralba and Pérez-Calbo

  • Letter to the Editor
  • Published:
Journal of Inherited Metabolic Disease

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

References

  • Torralba MA, Pérez-Calvo JI (2009) Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease. J Inherit Metab Dis 32 doi:10.1007/s10545-009-1114-z

  • Torralba MA, Alfonso P, Pérez-Calvo JI, et al (2002) High prevalence of the 55-bp deletion (c.1263del55) in exon 9 of the glucocerebrosidase gene causing misdiagnosis (for homozygous N370S (c.1226A>G) mutation) in Spanish Gaucher Disease patients. Blood Cells Mol Dis 29 35–40 doi:10.1006/bcmd.2002.0535

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Author notes

  1. C. Fairley

    Present address: Genzyme Corporation, Cambridge, MA, USA

Authors and Affiliations

  1. UCSF, San Francisco, CA, USA

    C. Fairley & S. Packman

  2. Shaare-Zedek Medical Centre, Jerusalem, Israel

    A. Zimran & M. Phillips

  3. Genzyme Corporation, Cambridge, MA, USA

    M. Cizmarik & J. Yee

  4. University Research Foundation for Lysosomal Storage Disorders, Coral Springs, FL, USA

    N. Weinreb

  5. Department of Pediatrics, Division of Medical Genetics, University of California, 533 Parnassus Avenue Room U585K, San Francisco, CA, 94143-0748, USA

    S. Packman

Authors
  1. C. Fairley
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. A. Zimran
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. M. Phillips
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. M. Cizmarik
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. J. Yee
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. N. Weinreb
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. S. Packman
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to S. Packman.

Additional information

Communicating editor: G. Berry

Rights and permissions

Reprints and permissions

About this article

Cite this article

Fairley, C., Zimran, A., Phillips, M. et al. Response to Torralba and Pérez-Calbo. J Inherit Metab Dis 32, 455–456 (2009). https://doi.org/10.1007/s10545-009-9963-z

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10545-009-9963-z

Keywords

Search

Navigation