Gaucher's disease

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Introduction

Familial disorder resulting from glucocerebrosidase deficiency.

Epidemiology

Pathology

Genetics

Clinical manifestations

Laboratory

* reverse transcriptase polymerase chain reaction

Radiology

Complications

Management

More general terms

More specific terms

Additional terms

References

  1. Textbook of Biochemistry with Clinical Correlations, 3rd ed., TM Devlin (ed), Wiley-Liss, NY 1992 pg 459
  2. Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 451
  3. Medical Knowledge Self Assessment Program (MKSAP) 11, American College of Physicians, Philadelphia 1998
  4. 4.0 4.1 4.2 Zimmerman, Ari
  5. 5.0 5.1 ARUP Consult: Gaucher Disease https://arupconsult.com/ati/gaucher-disease
    ARUP Consult: Jewish Genetic Disease The Physician's Guide to Laboratory Test Selection & Interpretation
    Ashkenazi Jewish Genetic Diseases Carrier Screening Algorithm https://arupconsult.com/algorithm/jewish-genetic-diseases-carrier-screening-algorithm
    Ashkenazi Jewish Genetic Diseases Panel https://arupconsult.com/ati/ashkenazi-jewish-genetic-diseases-panel

Patient information

Gaucher's disease patient information

Database