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Gaucher disease
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Publications and studies (1229)
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. High-Dose Ambroxol in Pediatric Type III Gaucher Disease (GD3) (2026-04-03) ♡
- Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. Phase 1/2 Clinical Trial of PR001 in Infants With Type 2 Gaucher Disease (PROVIDE) (2026-04-01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study of Home vs Hospital Treatment in People With Fabry, Gaucher or Hunter Conditions in Mexico (2026-03-27) ♡
- Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. Study of CAR T-Cells Targeting the GD2 With IL-15+iCaspase9 for Relapsed/Refractory Neuroblastoma or Relapsed/Refractory Osteosarcoma (2026-03-27) ♡
- Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders) (2026-03-17) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Survey Study for Velaglucerase Alfa (VPRIV) in Japan (2026-03-04) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. PREDIGA 2: Spanish Acronym of "Educational and Diagnostic Project for Gaucher and ASMD" (2026-02-19) ♡
- Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1) (2026-02-18) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. GammaGA: Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and/or Multiple Myeloma (2026-02-11) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Longitudinal Study of Neurodegenerative Disorders (2026-02-09) ♡
- Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. A Clinical Study Evaluating LY-M001 Injection in the Treatment of Adult Patients With Type I Gaucher Disease (2026-01-26) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Institutional Registry of Rare Diseases (2026-01-14) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Data Collection Study of Patients With Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT With RIC (2026-01-13) ♡
- Commentary on Prenatal Testing of a Complex Pathogenic Variant following Positive Carrier Screening for Gaucher Disease. (2025/12/30) ♡
- Prenatal Testing of a Complex Pathogenic Variant following Positive Carrier Screening for Gaucher Disease. (2025/12/30) ♡
- Commentary on Prenatal Testing of a Complex Pathogenic Variant following Positive Carrier Screening for Gaucher Disease. (2025/12/30) ♡
- 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 in North America: a comprehensive review of enzyme therapies and unmet needs. (2025/12/23) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Genetic Modeling of Lysosomal Storage Disorders (LSDs) in the Brain-Midgut Axis of Drosophila melanogaster During Aging. (2025/12/19) ♡
- Simultaneous Determination of Lyso-Gb1 and Lyso-Gb3 in Plasma Using Salt-Assisted Liquid-Liquid Extraction Combined with LC-MS/MS. (2025/12/15) ♡
- A guide to selecting high-performing antibodies for GCase (UniProt ID: P04062) for use in western blot, immunoprecipitation, and immunofluorescence. (2025/12/15) ♡
- 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. Refining Mouse Models of Gaucher Disease: Advancing Mechanistic Insights, Biomarker Discovery, and Therapeutic Strategies. (2025/12/10) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Crossing the barrier: nanomedicine as a frontier therapy for neuropathic Gaucher disease type 3. (2025/12/09) ♡
- Inhibition or genetic reduction of ASAH1/acid ceramidase restore α-synuclein clearance in mutant GBA1 dopamine neurons from Parkinson's patients. (2025/12/04) ♡
- Early initiation of enzyme replacement therapy as facilitated by newborn screening improves health outcomes among patients with infantile-onset Pompe disease. (2025/12/04) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Early Enzyme Replacement Therapy Does Not Prevent the Protein Losing Enteropathy Syndrome in Neurovisceral Gaucher Disease. (2025/12/01) ♡
- Infantile-onset Pompe disease entering adulthood: Insights from 2 decades of enzyme replacement therapy experience. (2025/12/01) ♡
- 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. Pulmonary Manifestations of Lysosomal Storage Disorders in Adults. (2025/12/01) ♡
- Correlation of Plasma Lyso-GL1 Levels with Clinical Phenotype and Treatment Decisions in Patients with Gaucher Disease. (2025/12/01) ♡
- 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. The lysosome and proteostatic stress at the intersection of pediatric neurological disorders and adult neurodegenerative diseases. (2025/12/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Homozygous GBA1 p.T82I variant in type 1 Gaucher disease: clinical and biochemical characterization. (2025/12/01) ♡
- Metabolic reprogramming and altered ATP content impair neuroprotective functions of microglia in β-glucocerebrosidase deficiency models. (2025/11/25) ♡
- Elevated Transaminases: Does It Always Warrant a Liver Biopsy? Lessons Learned From Pompe Disease. (2025/11/24) ♡
- GBA1 Gene-Associated Transcriptomic Signatures Reveal Risk Genes in Parkinson's Disease. (2025/11/17) ♡
- Correction: Glycoprotein non-metastatic melanoma protein B is a biomarker of inflammation in individuals with Gaucher disease: relationship to clinico-pathological subtypes. (2025/11/17) ♡
- Patient-Specific Midbrain Organoids with CRISPR Correction Reveal Disease Mechanisms and Enable Therapeutic Evaluation in Neuronopathic Gaucher Disease. (2025/11/14) ♡
- Transcriptomic signatures in Gaucher disease subtypes: A systems biology perspective. (2025/11/13) ♡
- The Gaucher Earlier Diagnosis Consensus point-scoring system for children and young adults: a retrospective and prospective evaluation in Korea. (2025/11/10) ♡
- Precision genomic profiling in Gaucher disease: insights from atypical presentations. (2025/11/07) ♡
- Gaucher Disease-Correlation of Lyso-Gb1 with Haematology and Biochemical Parameters. (2025/11/07) ♡
- 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. Sphingolipids in Gaucher disease: a systematic review. (2025/11/06) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Blockade of cannabinoid CB(1) receptors potentiates the anti-fibrotic effects mediated by SGLT2 inhibition in a mouse model of diabetic nephropathy. (2025/11/01) ♡
- 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. Navigating the Emotional and Practical Challenges of Newborn Screening for Late-Onset Pompe Disease: Insights From Parental Perspectives. (2025/11/01) ♡
- A large long-term database of Gaucher disease patients demonstrates increased risk of lymphoma and myeloma, but not of solid tumours. (2025/11/01) ♡
- Quantitative muscle ultrasound as a window into disease progression in infantile-onset Pompe disease. (2025/11/01) ♡
- QSP-Copilot: An AI-Augmented Platform for Accelerating Quantitative Systems Pharmacology Model Development. (2025/11/01) ♡
- Bone involvement in Gaucher disease: Data from a North African registry. (2025/11/01) ♡
- Liver involvement in Gaucher disease type I: a retrospective single-center study from Ukraine. (2025/10/29) ♡
- Glycoprotein non-metastatic melanoma protein B is a biomarker of inflammation in individuals with Gaucher disease: relationship to clinico-pathological subtypes. (2025/10/28) ♡
- An injectable hydrogel containing N-acetylglycine for the treatment of Gaucher disease. (2025/10/28) ♡
- 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. Secondary Mitochondrial Dysfunction in Gaucher Disease Type I, II and III-Review of the Experimental and Clinical Evidence. (2025/10/28) ♡
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