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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 (183)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 (32)

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Publications and studies (1229)

• GBA Analysis in Next-Generation Era: Pitfalls, Challenges, and Possible Solutions. (2017/09/01) ♡
• Investigation of novel pharmacological chaperones for Gaucher Disease. (2017/09/01) ♡
• Phase 3 studyiResearch in a large group of patients, the final step before a treatment can be approved. What comes out here carries significant weight. Reductions in glucosylsphingosine (lyso-Gb1) in treatment-naïve and previously treated patients receiving velaglucerase alfa for type 1 Gaucher disease: Data from phase 3 clinical trials. (2017/09/01) ♡
• 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. Recent advances and novel treatments for sphingolipidoses. (2017/09/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Persistent Hemolysis after Laparoscopic Partial Splenectomy in Children. (2017/09/01) ♡
• Progranulin acts as a shared chaperone and regulates multiple lysosomal enzymes. (2017/09/01) ♡
• GBA mutations in Gaucher type I Venezuelan patients: ethnic origins and frequencies. (2017/09/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Thalassaemia Trait with Gaucher Disease: A Diagnostic Dilemma. (2017/09/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Actual reason for bone fractures in the case of a patient followed-up with the osteogenesis imperfecta: Gaucher's Disease. (2017/09/01) ♡
• Chronic pain in Gaucher disease: skeletal or neuropathic origin? (2017/08/31) ♡
• Sustained immune tolerance induction in enzyme replacement therapy-treated CRIM-negative patients with infantile Pompe disease. (2017/08/17) ♡
• Glucosylceramide and Glucosylsphingosine Quantitation by Liquid Chromatography-Tandem Mass Spectrometry to Enable In Vivo Preclinical Studies of Neuronopathic Gaucher Disease. (2017/08/15) ♡
• 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. Overview of immune abnormalities in lysosomal storage disorders. (2017/08/01) ♡
• LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease. (2017/07/27) ♡
• Type 3 Gaucher disease, diagnostic in adulthood. (2017/07/11) ♡
• Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil. (2017/07/04) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Torsion of a wandering spleen in an adolescent with Gaucher disease. (2017/07/01) ♡
• Lysosomal storage disorders: Morphologic appraisal in Indian population. (2017/07/01) ♡
• 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. Introduction to the Newborn Screening, Diagnosis, and Treatment for Pompe Disease Guidance Supplement. (2017/07/01) ♡
• The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease. (2017/07/01) ♡
• Saccadic Impairments in Patients with the Norrbottnian Form of Gaucher's Disease Type 3. (2017/06/22) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Treatment of profound thrombocytopenia in a patient with Gaucher disease type 1: Is there a role for substrate reduction therapy. (2017/06/22) ♡
• 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. Spotlight on taliglucerase alfa in the treatment of pediatric patients with type 1 Gaucher disease. (2017/06/16) ♡
• 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. (2017/05/25) ♡
• 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 Spectrum of Neurological Manifestations Associated with Gaucher Disease. (2017/03/02) ♡
• 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 Disorders and Malignancy. (2017/02/27) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Lysosomal acid lipase deficiency: Expanding differential diagnosis. (2017/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Intrathecal Baclofen Pump Implantation for Type 2 Gaucher Disease. (2017/01/01) ♡
• 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. Death by over-eating: The Gaucher disease associated gene GBA1, identified in a screen for mediators of autophagic cell death, is necessary for developmental cell death in Drosophila midgut. (2017/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. [Progressive pulmonary hypertension in a patient with type 1 Gaucher disease]. (2017/01/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Stem Cell Transplant for Inborn Errors of Metabolism (2017-12-28) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Phase III Study of ISU302 in Patients With Type 1 Gaucher Disease (2017-07-12) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study to Evaluate and Characterize the Effect of Pharmacological Chemicals on Blood From Patients With Gaucher Disease (2017-07-02) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Convection-Enhanced Delivery of Glucocerebrosidase to Treat Type 2 Gaucher Disease (2017-07-02) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Effects of Enzyme Replacement in Gaucher's Disease (2017-07-02) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. OGT 918-006: A Phase I/II Randomized, Controlled Study of OGT 918 in Patients With Neuronopathic Gaucher Disease (2017-07-02) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Exploration of Immunity in Gaucher Disease (2017-04-04) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Investigating Lysosomal Storage Diseases in Minority Groups (2017-04-04) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study of the Effects of Renal Impairment on the Pharmacokinetics and Tolerability of Eliglustat Tartrate (2017-03-08) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease (ENGAGE) (2017-03-03) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study of the Efficacy and Safety of Eliglustat Tartrate (Genz-112638) in Type 1 Gaucher Patients (2017-02-15) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study of the Effects of Hepatic Impairment on the Pharmacokinetics and Tolerability of Eliglustat Tartrate (2017-02-10) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease to Evaluate Once Daily Versus Twice Daily Dosing (EDGE) (2017-02-06) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease Who Have Reached Therapeutic Goals With Enzyme Replacement Therapy (ENCORE) (2016-11-25) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Thrombocytopathy in Gaucher Disease Patients (2016-10-28) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. An Open-Label, Dose Escalation Study to Evaluate the Safety and the Pharmacokinetics of Oral PRX-112 (2016-09-28) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Bone Response to Enzyme Replacement in Gaucher's Disease (2016-09-22) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. The Safety and Efficacy Study of ISU302 in Patient With Type I Gaucher Disease (2016-08-23) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Auto-antibodies Prevalence and CD1 Role in Gaucher Disease (2016-03-23) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Validating a New Severity Score System for Adults With Type 1 Gaucher Disease (GD1) (2015-06-01) ♡

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