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Diagnostic and treatment challenges of neuronopathic Gaucher disease: Two caseswith an intermediate phenotype

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Journal of Inherited Metabolic Disease

Abstract

Summary: Gaucher disease (GD) is a lysosomal storage disorder with a broad, overlapping clinical spectrum. The presented two case reports highlight the clinical evaluation required in neuronopathic GD to assist with medical management and genetic counselling.

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Author notes

  1. P. S. Kishnani

    Present address: Department of Pediatrics, Division of Medical Genetics, Trent Drive, Bell Building, Room 237, Duke University Medical Center, Durham, NC, 27710, USA. E-mail

Authors and Affiliations

  1. Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA

    R. Hanna, M. T. McDonald, J. A. Sullivan, J. F. Mackey, V. Krishnamurthy & P. S. Kishnani

Authors
  1. R. Hanna
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  2. M. T. McDonald
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  3. J. A. Sullivan
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  4. J. F. Mackey
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  5. V. Krishnamurthy
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  6. P. S. Kishnani
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Hanna, R., McDonald, M.T., Sullivan, J.A. et al. Diagnostic and treatment challenges of neuronopathic Gaucher disease: Two caseswith an intermediate phenotype. J Inherit Metab Dis 27, 687–690 (2004). https://doi.org/10.1023/B:BOLI.0000043027.80328.75

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  • DOI: https://doi.org/10.1023/B:BOLI.0000043027.80328.75

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