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Critical Reviews™ in Oncogenesis
SJR: 0.631 SNIP: 0.503 CiteScore™: 2

ISSN Druckformat: 0893-9675
ISSN Online: 2162-6448

Critical Reviews™ in Oncogenesis

DOI: 10.1615/CritRevOncog.2013006060
pages 163-175

Gaucher Disease: A Comprehensive Review

Barry E. Rosenbloom
David Geffen School of Medicine at UCLA and Cedars-Sinai, the Comprehensive Gaucher Diagnostic and Treatment Center at Cedars-Sinai Medical Center, Beverly Hills, California 90211
Neal J. Weinreb
University Research Foundation for Lysosomal Storage Diseases, Boca Raton, Florida 33433, USA and the Dr. John T Macdonald Foundation, Department of Human Genetics at the University of Miami Miller School of Medicine, Miami, Florida, 33144, USA

ABSTRAKT

Gaucher disease (GD) is an inherited error of metabolism due to a deficiency of glucocerebrosidase. This leads to excessive storage of glucocerebroside in the liver, spleen, bone, and bone marrow. Patients develop anemia, thrombocytopenia, hepatosplenomegaly, bone infarcts, aseptic necrosis of bone, and osteoporosis. There are three types of GD; types 2 and 3 have neurological involvement. With the advent of enzyme replacement therapy and substrate reduction therapy, the natural history of the disease has been has significantly changed, with a marked decrease in morbidity, especially for type 1 patients. This article reviews a broad spectrum of information regarding Gaucher disease, from the history of the disease to newer therapies still in the investigational stage.


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