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Gaucher disease

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Search Period All yearsLast 12 monthsLast 5 years Topic All topicsGeneralNutrition and dietAlternative treatment methods Type of research Any type of researchHighest level of evidence only (34)Meta-analysis (4)Treatment guideline (3)Systematic review (11)Phase 3 study (11)Randomized trial (5)Clinical trial (184)Review article (180)Early study (phase 1 or 2) (18)Case report (134)Laboratory or animal research (31)Commentary or editorial (32)Retracted publication (1) Studies currently recruiting participants only (33)

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Publications and studies (1230)

• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Thalamic and dentate nucleus abnormalities in the brain of children with Gaucher disease. (2018/12/01) ♡
• Progranulin associates with hexosaminidase A and ameliorates GM2 ganglioside accumulation and lysosomal storage in Tay-Sachs disease. (2018/12/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Pharmacological treatment of pediatric Gaucher disease. (2018/12/01) ♡
• The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidase. (2018/12/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Brain-penetrant heat shock protein amplifier arimoclomol enhances GCase activity in in vitro Gaucher disease models. (2018/12/01) ♡
• Prenatal gene therapy offers the earliest possible cure. (2018/12/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Small Bowel Mucosal Involvement and Mesenteric Mass Formation in a Young Female with Type 3 Gaucher Disease. A Case Report. (2018/12/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Lysosomal storage disease overview. (2018/12/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Gaucher Disease Involving Virchow's Lymph Node: a Case Report. (2018/12/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Individualized screening for chaperone activity in Gaucher disease using multiple patient derived primary cell lines. (2018/11/15) ♡
• Genotypes and phenotypes in 20 Chinese patients with type 2 Gaucher disease. (2018/11/01) ♡
• Improvement in bone marrow infiltration in patients with type I Gaucher disease treated with taliglucerase alfa. (2018/11/01) ♡
• Utility of amniotic fluid chitotriosidase in the prenatal diagnosis of lysosomal storage disorders. (2018/11/01) ♡
• Synthesis of novel mono and bis nitric oxide donors with high cytocompatibility and release activity. (2018/11/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Evolution of a severe case of idiopathic retinal vasculitis, aneurysms, and neuroretinitis (IRVAN) during pregnancy. (2018/11/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Three mutations of adult type 1 Gaucher disease found in a Chinese patient: A case report. (2018/11/01) ♡
• [The basics of lysosomal storage diseases]. (2018/11/01) ♡
• [Gaucher's disease - an overview about a sphingolipidosis]. (2018/11/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Biomarker combination is necessary for the assessment of Gaucher disease? (2018/11/01) ♡
• Gene variants of osteoprotegerin, estrogen-, calcitonin- and vitamin D-receptor genes and serum markers of bone metabolism in patients with Gaucher disease type 1. (2018/10/24) ♡
• Preliminary Results of Highly Injectable Bi-Phasic Bone Substitute (CERAMENT) in the Treatment of Benign Bone Tumors and Tumor-like Lesions. (2018/10/22) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Fever, pulmonary interstitial fibrosis, and hepatomegaly in a 15-year-old boy with Gaucher disease: a case report. (2018/10/21) ♡
• Design of a New α-1-C-Alkyl-DAB Derivative Acting as a Pharmacological Chaperone for β-Glucocerebrosidase Using Ligand Docking and Molecular Dynamics Simulation. (2018/10/18) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of the neurological spectrum. (2018/10/18) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Aortic calcification in Gaucher disease: a case report. (2018/10/17) ♡
• Partial loss of ATP13A2 causes selective gliosis independent of robust lipofuscinosis. (2018/10/01) ♡
• The GBA p.Trp378Gly mutation is a probable French-Canadian founder mutation causing Gaucher disease and synucleinopathies. (2018/10/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. A novel Parkinson's disease risk variant, p. W378R, in the Gaucher's disease GBA gene. (2018/10/01) ♡
• Budget Impact Analysis of Eliglustat for the Treatment of Gaucher Disease Type 1 in the United States. (2018/10/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Lysosomal storage diseases. (2018/10/01) ♡
• Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India. (2018/10/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. The Clinical Efficacy of Imiglucerase versus Eliglustat in Patients with Gaucher's Disease Type 1: A Systematic Review. (2018/10/01) ♡
• Retinal detachment in a boy with Gaucher disease. (2018/09/18) ♡
• Longitudinal transcriptomic characterization of the immune response to acute hepatitis C virus infection in patients with spontaneous viral clearance. (2018/09/17) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. A health state utility valuation study to assess the impact of treatment mode of administration in Gaucher disease. (2018/09/10) ♡
• Multi-parametric MR imaging using apparent diffusion coefficient and fat fraction in quantification of bone marrow in pediatrics with Gaucher disease. (2018/09/01) ♡
• Alleles with more than one mutation can complicate genotype/phenotype studies in Mendelian disorders: Lessons from Gaucher disease. (2018/09/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Rapid intravenous infusion of velaglucerase-alfa in adults with type 1 Gaucher disease. (2018/09/01) ♡
• Fetal gene therapy for neurodegenerative disease of infants. (2018/09/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Fetal gene therapy could be feasible for neuronopathic Gaucher disease. (2018/09/01) ♡
• Prevalence and predictors of liver fibrosis evaluated by vibration controlled transient elastography in type 1 Gaucher disease. (2018/09/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations. (2018/08/31) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey. (2018/08/01) ♡
• Is Parkinson's disease a lysosomal disorder? (2018/08/01) ♡
• Impact of sphingolipids on osteoblast and osteoclast activity in Gaucher disease. (2018/08/01) ♡
• A multicenter, open-label, phase III study of Abcertin in Gaucher disease: Erratum. (2018/08/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Enzyme Replacement Therapy in a Gaucher Family. (2018/08/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Blood lysosphingolipids accumulation in patients with parkinson's disease with glucocerebrosidase 1 mutations. (2018/08/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. The Importance of a Multidisciplinary Approach in the Management of a Patient with Type I Gaucher Disease. (2018/07/26) ♡
• Cross-Linked Enzyme Aggregates as Versatile Tool for Enzyme Delivery: Application to Polymeric Nanoparticles. (2018/07/18) ♡

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