Gaucher Disease
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Subject Areas on Research
- A randomized trial comparing the efficacy and safety of imiglucerase (Cerezyme) infusions every 4 weeks versus every 2 weeks in the maintenance therapy of adult patients with Gaucher disease type 1.
- Biliary excretion of glycolipid in induced or inherited glucosylceramide lipidosis.
- Calcification of the ascending aorta and aortic and mitral valves in Gaucher's disease.
- Diagnosis and Management of Gaucher Disease in India - Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics.
- Diagnostic and treatment challenges of neuronopathic Gaucher disease: two cases with an intermediate phenotype.
- Divergent phenotypes in Gaucher disease implicate the role of modifiers.
- Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapy.
- Erythrophagocytosis in Gaucher cells.
- Gaucher disease. Current issues in diagnosis and treatment. NIH Technology Assessment Panel on Gaucher Disease.
- Identification of genetic defect of an epilepsy: strategies for therapeutic advances.
- Intrahepatic, extramedullary hematopoiesis mimicking hemangioma on technetium-99m red blood cell SPECT examination.
- L-glucosylceramide: synthesis, properties, and resistance to catabolism by glucocerebrosidase in vitro.
- Macrophages (histiocytes) in various reactive and inflammatory conditions express different antigenic phenotypes.
- Peripheral retinal vascular lesions in a patient with Gaucher disease and factor XI deficiency. Case report.
- Proton magnetic resonance spectroscopic imaging in childhood ataxia with diffuse central nervous system hypomyelination.
- Pseudo-Gaucher cells in multiple myeloma.
- Rapid assays for Gaucher and Hurler diseases in dried blood spots using digital microfluidics.
- Recombinant macrophage targeted enzyme replacement therapy for Gaucher disease in India.
- Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States.
- Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1.
- Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.
- Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease.