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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. A very rare cause of protein losing enteropathy: Gaucher disease. (2021/01/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2 (2021-11-08) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Gaucher Disease (2021-06-29) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease (2021-06-28) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Retrospective and Prospective Observational Study of MRI Changes in Bone and Visceral Lesions of Patients With Type 1 Gaucher Disease Treated With VPRIV® (Velaglucerase Alfa) (2021-06-22) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Open-Label Extension Study Evaluating Long Term Safety in Patients With Type 1 Gaucher Disease Receiving DRX008A (ERT) (2021-06-22) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Multicenter Extension Study of Velaglucerase Alfa in Japanese Patients With Gaucher Disease (2021-06-14) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Efficacy and Safety Study of Velaglucerase Alfa in Children and Adolescents With Type 3 Gaucher Disease (2021-06-11) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase (2021-06-10) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. An Open-Label Extension Study of GA-GCB ERT in Patients With Type 1 Gaucher Disease (2021-06-10) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease (2021-06-08) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Complement Activation in the Lysosomal Storage Disorders (2021-06-07) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Lyso-Gb1 as a Long-term Prognostic Biomarker in Gaucher Disease (2021-05-28) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Treatment Protocol of Velaglucerase Alfa for Patients With Type 1 Gaucher Disease (2021-05-21) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study to Determine Mutations in the Gaucher Gene in Patients With Idiopathic Parkinson's Disease for Phenotype-genotype Correlation (2021-04-09) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Getting Global Rare Disease Insights Through Technology Study (2021-04-08) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Phase I Study to Compare Abcertin and EU-sourced Cerezyme® in Healthy Volunteers (2021-04-05) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Genzyme Osteopenia/Osteoporosis Study (2021-03-23) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Rapid Intravenous Infusion of Velaglucerase Alfa (VPRIV) in Treatment-naive Patients With Type 1 Gaucher Disease (2021-03-19) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Home Therapy With VPRIV in Gaucher's Disease (2021-03-17) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Molecular and Cellular Mechanisms of Lysosomal Storage Diseases (2021-02-23) ♡
• The patient journey of patients with Fabry disease, Gaucher disease and Mucopolysaccharidosis type II: A German-wide telephone survey. (2020/12/31) ♡
• MiRNA Expression in Patients with Gaucher Disease Treated with Enzyme Replacement Therapy. (2020/12/22) ♡
• Eye movement biomarkers allow for the definition of phenotypes in Gaucher Disease. (2020/12/17) ♡
• Patients with Gaucher disease display systemic oxidative stress dependent on therapy status. (2020/12/09) ♡
• 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. Emerging Technologies in Scar Management: The Role of Allogeneic Cells. (2020/12/08) ♡
• 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 patient with Gaucher disease and plasma cell dyscrasia: bidirectional impact. (2020/12/04) ♡
• Elevated Dkk1 Mediates Downregulation of the Canonical Wnt Pathway and Lysosomal Loss in an iPSC Model of Neuronopathic Gaucher Disease. (2020/12/03) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Correction of pathology in mice displaying Gaucher disease type 1 by a clinically-applicable lentiviral vector. (2020/12/03) ♡
• Liver steatosis is highly prevalent and is associated with metabolic risk factors and liver fibrosis in adult patients with type 1 Gaucher disease. (2020/12/01) ♡
• GBA Variants in Parkinson's Disease: Clinical, Metabolomic, and Multimodal Neuroimaging Phenotypes. (2020/12/01) ♡
• Comparative functional analysis between human and mouse chitotriosidase: Substitution at amino acid 218 modulates the chitinolytic and transglycosylation activity. (2020/12/01) ♡
• Ganglion Cell Complex Thinning in Young Gaucher Patients: Relation to Prodromal Parkinsonian Markers. (2020/12/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Consequences of treatment for hemophagocytic lymphohistiocytosis in a patient with undiagnosed Gaucher disease Type 1. (2020/12/01) ♡
• The Lysosome and Nonmotor Symptoms: Linking Parkinson's Disease and Lysosomal Storage Disorders. (2020/12/01) ♡
• Combined analysis of plasma or serum glucosylsphingosine and globotriaosylsphingosine by UPLC-MS/MS. (2020/12/01) ♡
• A synergistic effect of Ambroxol and Beta-Glucosylceramide in alleviating immune-mediated hepatitis: A novel immunomodulatory non-immunosuppressive formulation for treatment of immune-mediated disorders. (2020/12/01) ♡
• Scoring system to facilitate diagnosis of Gaucher disease. (2020/12/01) ♡
• Outcomes of screening for gammopathies in children and adults with Gaucher disease type 1 in a cohort from Brazil and the United States. (2020/12/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. In vitro and in vivo effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsy. (2020/11/21) ♡
• Genetic characterization of the Albanian Gaucher disease patient population. (2020/11/17) ♡
• Fronto-temporal dementia risk gene TMEM106B has opposing effects in different lysosomal storage disorders. (2020/11/16) ♡
• The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects. (2020/11/11) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Caregiver willingness to vaccinate their children against COVID-19: Cross sectional survey. (2020/11/10) ♡
• [Application of plasma glucosylsphingosine detection in the follow-up of patients with Gaucher disease]. (2020/11/03) ♡
• [Clinical experience with orphan drugs for rare metabolic diseases]. (2020/11/03) ♡
• Enzyme kinetics and inhibition parameters of human leukocyte glucosylceramidase. (2020/11/02) ♡
• Serum protein profile analysis in lysosomal storage disorders patients. (2020/11/01) ♡
• Penetrance of Glucocerebrosidase (GBA) Mutations in Parkinson's Disease: A Kin Cohort Study. (2020/11/01) ♡
• Altered level of plasma exosomes in patients with Gaucher disease. (2020/11/01) ♡

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