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Einstein (São Paulo), 2007 Although Gaucher disease is a rare disorder, recent developments in novel means for therapeutic intervention have invigorated both academic research and pharmaceutical industry discovery programmes.
Guilherme Henrique Hencklain Fonseca +1 more
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Gaucher Disease and Cancer: Concept and Controversy [PDF]
International Journal of Cell Biology, 2011 Gaucher disease is an inherited disorder caused by a deficiency in the lysosomal hydrolase glucocerebrosidase. There is a wide spectrum of clinical presentations, with the most common features being hepatosplenomegaly, skeletal disease, and cytopenia ...
Francis Y. M. Choy, Tessa N. Campbell
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Unexpected macrophage-independent dyserythropoiesis in Gaucher disease
Haematologica, 2016 Gaucher disease is a rare inherited disease caused by a deficiency in glucocerebrosidase leading to lipid accumulation in cells of mononuclear-macrophage lineage known as Gaucher cells.
Nelly Reihani +9 more
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Journal of Inherited Metabolic Disease, 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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Gaucher disease causing sudden cardiac death
The Egyptian Heart Journal, 2016 A 17-year-old male patient with Gaucher disease was presented to our institution complaining of rapid irregular palpitations. Echocardiography showed the presence of critical aortic stenosis due to Gaucher disease.
Yehia Saleh +4 more
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Gaucher Disease pada Bayi: Kasus Jarang
Majalah Kedokteran Andalas, 2023 Pendahuluan: Gaucher disease (GD) adalah penyakit genetik yang ditandai dengan akumulasi substansi lemak di dalam sel atau organ-organ tertentu. Penyakit ini disebabkan oleh mutasi gen glucosidase beta acid (GBA) yang mengakibatkan defisiensi enzim ...
Rikarni Rikarni, Harika Putra
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Dental profile of patients with Gaucher disease
BMC Oral Health, 2003 Background This study was conducted to determine whether patients with Gaucher disease had significant dental pathology because of abnormal bone structure, pancytopenia, and coagulation abnormalities.
Mann Jonathan +4 more
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PLoS ONE, 2023 It is well established that patients with Gaucher disease, as well as carriers of the disease have an increased risk for developing Parkinson’s disease.
Marina Moraitou +7 more
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Gaucher Disease and Gaucher Cells
Turkish Journal of Hematology, 2015 Sevgi Gözdaşoğlu
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Orphanet Journal of Rare Diseases, 2023 Background Gaucher disease is a rare, autosomal recessive genetic disorder. It is caused by a lack of sufficient activity of the lysosomal enzyme known as glucocerebrosidase, which leads to an accumulation of glucocerebroside, a fatty substance, in the ...
Tanya Collin-Histed +3 more
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