Results 11 to 20 of about 12,191 (186)
Gaucher Disease and Gaucher Cells
Turkish Journal of Hematology, 2015 Sevgi Gözdaşoğlu
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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. The common mutations found in the lysosomal enzyme deficient in Gaucher disease, beta-glucocerebrosidase, earmark these proteins for destruction by the ...
Guilherme Henrique Hencklain Fonseca +1 more
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Clinical periodontal diagnosis
Periodontology 2000, EarlyView., 2023 Abstract Periodontal diseases include pathological conditions elicited by the presence of bacterial biofilms leading to a host response. In the diagnostic process, clinical signs such as bleeding on probing, development of periodontal pockets and gingival recessions, furcation involvement and presence of radiographic bone loss should be assessed prior ...
Giovanni E. Salvi +5 more
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Indian Journal of Endocrinology and Metabolism, 2011 Gaucher's disease (GD) is the most common amongst the various disorders classified under the lysosomal storage disorders. GD is a model for applications of molecular medicine to clinical delineation, diagnosis, and treatment. The multiorgan and varied presentation of the disease makes it a challenge to diagnose GD early.
Vijay Bohra, Velu Nair
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Neuropathological Features of Gaucher Disease and Gaucher Disease with Parkinsonism
International Journal of Molecular Sciences, 2022 Deficient acid β-glucocerebrosidase activity due to biallelic mutations in GBA1 results in Gaucher disease (GD). Patients with this lysosomal storage disorder exhibit a wide range of associated manifestations, spanning from virtually asymptomatic adults to infants with severe neurodegeneration.
Makaila L. Furderer +3 more
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Gaucher-like Cells in Thalassemia Intermedia: Is It a Challenge?
Diseases, 2023 We describe two cases of thalassemia intermedia (TI) patients with the presence of Gaucher-like cells in hematopoietic tissue biopsies, raising diagnostic dilemmas. The first is a 56-year-old female with bone lesions, splenomegaly, hypochromic microcytic
Veroniki Komninaka +7 more
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Clinical Case Reports, 2019 Recognizing Gaucher disease in elderly patients can be challenging. We present a Gaucher disease type 1 case diagnosed in an elderly patient with thrombocytopenia and lung adenocarcinoma.
Wen Shuai +5 more
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Molecular Genetics and Metabolism Reports, 2019 Advanced liver disease complicated by hepatopulmonary syndrome is a recognized complication of Gaucher disease. Macrophage-targeted, recombinant enzyme replacement therapy is effective in reversing clinical manifestations attributed to the accumulation ...
Amal El Beshlawy +3 more
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Cytokines in Gaucher disease: Role in the pathogenesis of bone and pulmonary disease
Egyptian Journal of Medical Human Genetics, 2015 Gaucher disease (GD) is the most frequently encountered lysosomal storage disease caused by inborn defects of the membrane-bound lysosomal enzyme, acid β-glucosidase or glucocerebrosidase.
Azza A.G. Tantawy
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Gaucher Disease and Cancer: Concept and Controversy
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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