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Current facts in the treatment of Gaucher disease [PDF]
Background. Gaucher disease (GD) is a rare metabolic disease with autosomal recessive transmission, caused by the mutation of the GBA gene, which causes a deficient synthesis of the enzyme β- glucocerebrosidase.
Sidorenko, Ludmila, Rotaru, Ludmila
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, 2011 Gaucher disease is a recessively inherited lysosomal storage disorder, caused by deficiency of glucocerebrosidase activity. Affected individuals usually present with hepatosplenomegaly, anaemia, thrombocytopenia, and skeletal diseases.
蔡力凱;簡穎秀;楊智超;胡務亮 +1 more
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, 2010 Journée du 5 avril 2008 à l’Université de Nantes, organisée par Elisabeth Gaucher : Le corps en représentationInternational ...
Gaucher, Elisabeth, Pomel, Fabienne
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Gaucher cells in chronic myelocytic leukemia: an acquired abnormality.
Blood, 1969 Herman E. Kattlove +5 more
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Multifocal large aggregates of pseudo-Gaucher cells in chronic myeloid leukemia. [PDF]
Blood Res, 2018 Sharma P, Kumar N, Varma N.
europepmc +1 more source
Sea-blue histiocytes and Gaucher cells in bone marrow of patients with chronic myeloid leukaemia.
Journal of Clinical Pathology, 1988 P. R. Kelsey, C. Geary
semanticscholar +1 more source
, 2009 [[abstract]]Gaucher disease, the most prevalent lysosomal storage disease characterized by a remarkable degree of clinical variability, results from deleterious mutations in the β-glucosidase gene.
Lei Wan;Hsu CM;Chang-Hai Tsai;Lee,Chun-Cheng;Hwu WL;Tsai,Fuu-Jen
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, 2001 Gaucher disease is a rarely seen autosomal recessive disorder associated with enzyme defect. Most commonly seen among Ashkenazian Jewish and its incidence in U.S.A is between 1110.000-20.0000.
Bilgiçli, Nesrin +3 more
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, 2008 Gaucher disease, the most prevalent lysosomal storage disease characterized by a remarkable degree of clinical variability, results from deleterious mutations in the beta- glucosidase gene.
許欽木;蔡長梅;李正淳;胡務亮;蔡輔仁 +1 more
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