← All diseases Metabolism and endocrine system

Gaucher disease

Automatically tracked from PubMed and ClinicalTrials.gov, newest on top. Nothing ever disappears here: what you keep in your favorites remains findable. · RSS feed of this disease · only the strongest evidence

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 study (30)Commentary or editorial (32)Retracted publication (1) Studies currently recruiting participants only (32)

Filter

Publications and studies (1227)

• 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. Gaucher disease: the hematologist's perspective of a multisystemic disorder. (2026/05/20) ♡
• Development and optimization of human glucocerebrosidase-encoding mRNA for Gaucher disease therapy. (2026/05/14) ♡
• Meta-analysisiAll studies on one question combined and calculated together. This is the strongest form of research that exists: a single loose study can be coincidence, dozens together much less so. The label says something about the design, not about the outcome — which can also be that something does NOT work. Genotype-phenotype correlations and mutation spectrum of GBA1 in Gaucher disease across Asian populations: a systematic review. (2026/05/04) ♡
• [Expert consensus on neonatal screening for common lysosomal storage disorders (2026)]. (2026/05/02) ♡
• Increased intervals in enzyme replacement therapy for stable type 1 Gaucher disease: A non-inferiority sequential trial emulation. (2026/05/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Effect of Glu235Ser on enzyme performance and in vitro characterization of human β-glucocerebrosidase in a Pichia pastoris. (2026/05/01) ♡
• Left Ventricular Global Longitudinal Strain as an Early Predictor of Disease Severity Progression in Gaucher Disease Type 1. (2026/05/01) ♡
• 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. Pharmacotherapies for Gaucher disease: what's new on the horizon? (2026/05/01) ♡
• Transcriptomic Profiling of Monozygotic Twins with Type 1 Gaucher Disease. (2026/04/29) ♡
• Family studies in Gaucher Disease: a key resource for early diagnosis and personalized treatment strategies. (2026/04/28) ♡
• A Multiscale Signaling-Biophysical Framework Reveals Mechanisms of Macrophage-Mediated RBC Clearance in Sickle Cell and Gaucher Disease. (2026/04/22) ♡
• Glucosylsphingosine (Lyso-Gb1) Dynamics in Untreated States in Gaucher Disease. (2026/04/22) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Addressing kyphoscoliosis in Gaucher's disease: a multidisciplinary approach to a rare case. (2026/04/15) ♡
• Genomic Structural Equation Modeling Provides an Initial View of the Genetic Architecture Related to Type 1 Gaucher Disease. (2026/04/15) ♡
• Restoration of lysosomal membrane integrity in cell models of Pompe disease depends on fatty acid synthase and its product palmitic acid. (2026/04/09) ♡
• The c-Abl-RIPK3 Axis Drives Mitochondrial Dysfunction and Impaired Mitophagy in Gaucher Disease Models. (2026/04/09) ♡
• Familial clustering and physiological risk factors associated with intervertebral disc degeneration in a large population-based cohort. (2026/04/04) ♡
• Adverse events signals of enzyme replacement drugs of Gaucher disease: insights from FAERS database analysis. (2026/04/02) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Longitudinal Evaluation of Neurological and Sensory Changes in Gaucher Disease: A Prospective Observational Cohort Study (SENOPRO). (2026/04/02) ♡
• Motor and Cognitive Outcome After Subthalamic Nucleus Deep Brain Stimulation in Patients with Parkinson's Disease Harboring GBA1 Variant. (2026/04/01) ♡
• The Application of Machine-Learning Algorithms for Multiclass Classification of Microcytic Anemia Revealed That a Minimum Required Number of Hematological Parameters Is Enough to Achieve High Diagnostic Accuracy. (2026/04/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Rare in Rare: Overlapping Clinical Features in a Patient With Both Gaucher Disease Type 1 and B4GALT-CDG: Expanding the Clinical Spectrum With a Novel Pathogenic Variant. (2026/04/01) ♡
• Systematic reviewiAll research on one question is searched according to fixed rules and compared side by side, so that no studies with poor outcomes are missed. Lessons from late-onset Pompe disease identified by Newborn screening: A systematic review. (2026/04/01) ♡
• Childhood Interstitial Lung Disease in Metabolic Disorders: Prevalence, Genotypic and Clinical Characteristics, and Management Approaches: An Analysis of the Child-Turkey Registry. (2026/04/01) ♡
• Targeted delivery of glucocerebrosidase to lysosomes: The LYSOTAC (LYSOsome-TArgeting Chimera) technology. (2026/04/01) ♡
• Lipidomics uncovers metabolic manifestations related to liver steatosis and low-grade systemic inflammation in diet-treated hereditary fructose intolerance patients. (2026/04/01) ♡
• Improvement of Bone Mineral Density in Patients with Type 1 Gaucher Disease Treated with Velaglucerase Alfa: Results from Clinical Studies. (2026/03/26) ♡
• Progression of GBA1 severe and risk variants: a longitudinal mixed model analysis. (2026/03/26) ♡
• Gaucher disease masked by childhood splenectomy: a forty-year diagnostic delay. (2026/03/24) ♡
• 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 dual impact of GBA1 in disease: from germline mutations in neurological disorders to alterations in cancer. (2026/03/19) ♡
• Real-World Effectiveness and Safety of Eliglustat in Adult Patients with Gaucher Disease Type 1: A Multicenter Retrospective Study in China. (2026/03/18) ♡
• Safety and Efficacy of Ambroxol Therapy in Polish Patients with Gaucher Disease. (2026/03/16) ♡
• The global impact of imiglucerase therapy in children with Gaucher disease types 1 and 3: a real-world analysis from the International Collaborative Gaucher Group Gaucher Registry. (2026/03/11) ♡
• AAV gene therapy for GBA1-related diseases. (2026/03/04) ♡
• Development of Nickel Prussian Blue Analogue Nanoparticles Stabilizing the Glucocerebrosidase in the Treatment of Gaucher Disease (GD). (2026/03/04) ♡
• Meta-analysisiAll studies on one question combined and calculated together. This is the strongest form of research that exists: a single loose study can be coincidence, dozens together much less so. The label says something about the design, not about the outcome — which can also be that something does NOT work. GBA1 Variants with Unknown Classification Are Modest Contributors to Parkinson's Disease Susceptibility. (2026/03/01) ♡
• Welcome Pathogens: Transient Heat Dampens Immune Responses to Acibenzolar-S-Methyl in Apple Plants. (2026/03/01) ♡
• 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 Race to Salvage Glucocerebrosidase: Understanding Small-Molecule Therapies for GBA1-Associated Parkinsonism. (2026/03/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Maternal and Fetal Outcomes in Imiglucerase-Treated Patients With Gaucher Disease: Real-World Evidence From the International Collaborative Gaucher Group (ICGG) Gaucher Registry Pregnancy Sub-Registry. (2026/03/01) ♡
• Structural analysis of the plant glycoside hydrolase family 116 glucosylceramidase AtGCD3 by cryogenic electron microscopy. (2026/03/01) ♡
• Control of myopia progression by low-dose atropine (0.01%, 0.025% and 0.05%), defocus incorporated multiple segments/highly aspherical lenslets spectacles, and combined therapy in European children: A 3-year retrospective study. (2026/03/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Emerging pharmacotherapies in Gaucher disease. (2026/03/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Diagnosis and follow-up of the first case of Gaucher disease under enzyme replacement therapy in Senegal. (2026/03/01) ♡
• Chronic intermittent hypoxia reshapes circadian metabolic architecture in a model of sleep apnea. (2026/02/27) ♡
• Stability study of pharmacy compounded high-dose ambroxol hydrochloride capsules for an n-of-1 clinical trial involving Dutch patients with Gaucher disease type 3. (2026/02/26) ♡
• 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. Miglustat: a first-in-class enzyme stabilizer for cipaglucosidase alfa for the treatment of late-onset Pompe disease. (2026/02/26) ♡
• TikTok as a Platform for Patient Education and Health Information in Rare Genetic Diseases: Cross-Sectional Study. (2026/02/24) ♡
• Exploring delayed diagnosis in Gaucher disease: insights from a community survey and potential solutions. (2026/02/20) ♡
• Transition Readiness Assessment Questionnaire: A Tool Associated With Transfer Success for Adolescents and Young Adults Living With Sickle Cell Disease? (2026/02/18) ♡
• Neutral sp(2)-iminosugars exploiting non-glycone interactions for selective acid α- and β-glucosidase activity modulation: Pharmacological chaperones for Gaucher and Pompe diseases. (2026/02/15) ♡

↑ Back to top

codex.care does not provide medical advice. Always discuss symptoms, medication, and treatment choices with your own healthcare provider.