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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)

• Similarities and differences between Gaucher disease and acid sphingomyelinase deficiency: An algorithm to support the diagnosis. (2023/02/01) ♡
• Long-term effects of eliglustat on skeletal manifestations in clinical trials of patients with Gaucher disease type 1. (2023/02/01) ♡
• Low Glucocerebrosidase Activity Predicts Dementia in Parkinson Disease: Less Is Not More! (2023/01/24) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Niemann-Pick Disease: A Case Report and Literature Review. (2023/01/09) ♡
• PGRN deficiency exacerbates, whereas a brain penetrant PGRN derivative protects, GBA1 mutation-associated pathologies and diseases. (2023/01/03) ♡
• Long-term bone outcomes in Italian patients with Gaucher disease type 1 or type 3 treated with imiglucerase: A sub-study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry. (2023/01/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Etiology of avascular necrosis of the hip and shoulder. Screening for Gaucher disease. (2023/01/01) ♡
• Oxidative and chromosomal DNA damage in patients with type I Gaucher disease and carriers. (2023/01/01) ♡
• Clock Drawing Test: Types of Errors and Accuracy in Early Cognitive Screening. (2023/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Massive Splenomegaly with Pancytopenia in an Adult: Gaucher's Disease. (2023/01/01) ♡
• Mutational Analysis and Genotype Investigation of Less Known Gaucher Mutations through Haplotype Analysis in Iranian Gaucher Patients. (2023/01/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study of Enzyme Replacement Therapy (VPRIV) in People With Type 1 Gaucher Disease Who Were Previously Treated With Substrate Reduction Therapy (2023-12-21) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. PD Frontline (Part of RAPSODI GD) Remote Assessment of People With Parkinson's (2023-11-30) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study to Evaluate Absolute Bioavailability, Absorption, Metabolism, and Excretion of Genz-112638 in Healthy Male Participants (2023-11-22) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Second-generation AI Based Therapeutic Regimen in Patients With Gaucher Disease Treated With Enzyme Replacement Therapy. (2023-09-22) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Long-Term Follow-up Study of Subjects With Gaucher Disease Who Previously Received AVR-RD-02 (2023-08-29) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. An Efficacy and Safety Study of AVR-RD-02 Compared to Enzyme Replacement Therapy for Treatment of Gaucher Disease Type 3 (2023-08-09) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Post Marketing Surveillance (PMS) Study for Velaglucerase Alfa (VPRIV) in India (2023-06-07) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Multicenter Extension Study of Taliglucerase Alfa in Adult Subjects With Gaucher Disease (2023-04-19) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Assessment of Neurological Manifestations in Gaucher Disease Patients (2023-04-18) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Liver and the Spleen Stifness in Adult Patients With Gaucher's Disease Using Ultrasound Shear Wave Elastography (2023-03-06) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Ambroxol Therapy for Patients With Type 1 Gaucher Disease and Suboptimal Response to Enzyme Replacement Therapy (2023-02-14) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Biomarker for Gaucher Disease: BioGaucher (BioGaucher) (2023-02-13) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study of Arimoclomol in Patients Diagnosed With Gaucher Disease Type 1 or 3 (2023-01-11) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Compound heterozygous p.L483P and p.S310G mutations in GBA1 cause type 1 adult Gaucher disease: A case report. (2022/12/26) ♡
• 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. Global Incidence and Prevalence of Gaucher Disease: A Targeted Literature Review. (2022/12/22) ♡
• Treatment guidelineiAn official agreement between doctors about how this disease should be treated. This is not a single study but the conclusion of an entire medical field. Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1. (2022/12/21) ♡
• Gaucher Disease: One of the Few Causes of Massive Splenomegaly. (2022/12/19) ♡
• Suppression of pullulanase-induced cytotoxic T cell response with a dual promoter in GSD IIIa mice. (2022/12/08) ♡
• First-in-human in vivo genome editing via AAV-zinc-finger nucleases for mucopolysaccharidosis I/II and hemophilia B. (2022/12/07) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. A robust pipeline for efficient knock-in of point mutations and epitope tags in zebrafish using fluorescent PCR based screening. (2022/12/07) ♡
• 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. Anderson-Fabry Disease: A New Piece of the Lysosomal Puzzle in Parkinson Disease? (2022/12/05) ♡
• Physiologically-Based Pharmacokinetic Model Development, Validation, and Application for Prediction of Eliglustat Drug-Drug Interactions. (2022/12/01) ♡
• Photoredox-based late-stage functionalization in SAR study for in vivo potent glucosylceramide synthase inhibitor. (2022/12/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Targeting protein clearance pathways in GBA1-associated Parkinson disease. (2022/12/01) ♡
• Hydroxychloroquine, Interleukin-6 Receptor Antagonists and Corticoid Treatments of Acute COVID-19 Infection: Psychiatric Symptoms and Mental Disorders 4 Months Later. (2022/11/30) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Glucosylsphingosine (Lyso-Gb(1)): An Informative Biomarker in the Clinical Monitoring of Patients with Gaucher Disease. (2022/11/29) ♡
• 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. Hemostatic Abnormalities in Gaucher Disease: Mechanisms and Clinical Implications. (2022/11/24) ♡
• Wnt signaling pathway inhibitors, sclerostin and DKK-1, correlate with pain and bone pathology in patients with Gaucher disease. (2022/11/24) ♡
• Galactosyl- and glucosylsphingosine induce lysosomal membrane permeabilization and cell death in cancer cells. (2022/11/21) ♡
• 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. Targeting the Complement-Sphingolipid System in COVID-19 and Gaucher Diseases: Evidence for a New Treatment Strategy. (2022/11/18) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Pediatric Porcelain Aorta Secondary to Gaucher Disease Type 3C With Successful Aortic Replacement Surgery. (2022/11/16) ♡
• Brain-Derived Neurotrophic Factor (BDNF) Is Associated with Platelet Activity and Bleeding Tendency in Patients with Gaucher Disease. (2022/11/12) ♡
• [Clinicopathological study of Gaucher disease]. (2022/11/08) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Editorial: Neuronopathic lysosomal storage diseases - specific neuronal characteristics and therapeutic approaches. (2022/11/08) ♡
• Recommendations on the follow-up of patients with Gaucher disease in Spain: Results from a Delphi survey. (2022/11/08) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. An observational study to investigate the relationship between plasma glucosylsphingosine (lyso-Gb1) concentration and treatment outcomes of patients with Gaucher disease in Japan. (2022/11/03) ♡
• 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. [Pulmonary phenotypes of inborn errors of metabolism]. (2022/11/01) ♡
• Images from the Haematologica Atlas of Hematologic Cytology: Gaucher disease. (2022/11/01) ♡
• Autochthonous dengue in mainland France, 2022: geographical extension and incidence increase. (2022/11/01) ♡

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