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Gaucher disease
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Publications and studies (1229)
- Multivalent C2-alkyl trihydroxypiperidine architectures modulate β-glucocerebrosidase activity. (2026/10/15) ♡
- 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. Targeting lysosomal dysfunction with small-molecule TRPML1 ligands: Therapeutic opportunities in lysosomal storage disorders, neurodegeneration and beyond. (2026/10/05) ♡
- Chronic intermittent hypoxia triggers hepatic platelet recruitment. (2026/10/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Honoring Padma Shri Professor I.C. Verma - A Tribute from the Indian Medical Advisory Board (IMAB). (2026/09/01) ♡
- Cumulative Antigen Suppression Reduces Clonal Plasma Cell Evolution in Gaucher Disease. (2026/09/01) ♡
- Impact of Enzyme Replacement Therapy on Patients with Late Onset Pompe Disease - Real World Data from a Developing Country. (2026/09/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Long-Term Outcomes of Enzyme Replacement Therapy in Indian Patients with Gaucher Disease - A Multicentric Study. (2026/09/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Chemical tools for inhibition and activity-based profiling of glucocerebrosidase in vitro and in vivo. (2026/08/10) ♡
- The cutaneous phenotypic landscape of Gaucher disease type 1: a clinic-based cross-sectional study. (2026/08/10) ♡
- A dimer peptide ligand of vascular endothelial growth factor slows the progression of human gastric tumors in mouse xenografts. (2026/08/03) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Peripheral neuropathy in a mouse model lacking GBA1 in Schwann cells. (2026/08/03) ♡
- Liver MR elastography in Gaucher disease: Longitudinal association with disease severity. (2026/08/01) ♡
- Managing Pregnancy in Inherited Metabolic Disorders: Experience From a Single Tertiary Metabolic Center. (2026/08/01) ♡
- 4-Dehydroxymethyl-4-C-biphenyl-DAB derivatives: introduction of a biphenyl group at the C4 position shifts the binding selectivity, resulting in improved affinity for lysosomal acid β-glucocerebrosidase. (2026/07/31) ♡
- Crumpled cytoplasm, clear diagnosis: the iconic morphology of Gaucher disease. (2026/07/30) ♡
- E326K GBA polymorphism is associated with clinical and pathological features of synucleinopathy in the absence of overt Parkinson's disease or Lewy body dementia. (2026/07/22) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Establishment of a human induced pluripotent stem cell line (PNUSCRi003-A) from a patient with Gaucher disease carrying compound heterozygous p.Arg87Trp and p.Arg296Gln variants in the GBA1 gene. (2026/07/22) ♡
- [Paediatric Gaucher disease type 1: diagnostic challenges in presence of hepatosplenomegaly and pancytopenia]. (2026/07/21) ♡
- A genome-wide screen identifies that PLCG2 restrains lysosomal GCase activity. (2026/07/07) ♡
- 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. The Sphingolipid Balance and Endothelial Dysfunction in Lysosomal Storage Diseases: Shared Mechanisms in Gaucher, Niemann-Pick and Fabry Disease. (2026/07/03) ♡
- A bioinformatics-guided analytical approach for drug repositioning: Colchicine as a candidate for gaucher disease treatment. (2026/07/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Gaucher Disease Treated With Lentiviral-Mediated Gene Therapy: First Case. (2026/07/01) ♡
- True Gaucher's Disease or Pseudo-Gaucher Presentations. (2026/07/01) ♡
- 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. [Update: Evolution in the management of metastatic urothelial carcinomas]. (2026/07/01) ♡
- Sex-Specific Association of Rasagiline with Motor Progression in GBA1-Associated Parkinson's Disease. (2026/07/01) ♡
- 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. Bacterial keratitis: a global review of current practices, challenges and innovations. (2026/06/29) ♡
- Clinical Characteristics of 19 Patients With Acid Sphingomyelinase Deficiency: A Case Series From Multiple Centers in Argentina. (2026/06/28) ♡
- Clinical, biochemical and molecular spectrum of acute neuronopathic type 2 Gaucher disease from India. (2026/06/27) ♡
- Identification of a long-term surviving human mesenchymal stromal cell subpopulation and implications for recessive dystrophic epidermolysis bullosa treatment. (2026/06/27) ♡
- Differential COVID-19 Outcomes Across Lysosomal Disorders. (2026/06/24) ♡
- 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. Extracellular vesicles as minimally invasive biomarkers and therapeutic platforms in rare neurological diseases. (2026/06/24) ♡
- Patient-specific midbrain organoids with CRISPR correction recapitulate neuronopathic Gaucher disease phenotypes and enable evaluation of novel therapies. (2026/06/23) ♡
- persistent pain and fatigue drive reduced quality of life in treated Gaucher disease type 1: a cross-sectional analysis. (2026/06/16) ♡
- Epidemiological correlations and seasonal patterns of osteoporosis and its comorbidities: a 14-year big data analysis using search engine trends. (2026/06/16) ♡
- Development and validation of a high-throughput LC-MS/MS method for simultaneous quantification of Lyso-GL1 and Lyso-GL3 in dried blood spots for rare disease screening. (2026/06/15) ♡
- Intra-CNS AAV9-GBA1 delivery yields species and route of administration differences in safety and transgene expression. (2026/06/11) ♡
- Development of Dried Blood Spot Proficiency Testing Materials for Newborn Screening of Lysosomal Diseases Using Recombinant Enzymes. (2026/06/09) ♡
- A 53-week, open-label phase IIIb study of velaglucerase alfa in Chinese patients with type 1 Gaucher disease: Safety, efficacy, and pharmacokinetics. (2026/06/02) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Excess Risk of Monoclonal Gammopathy in Patients With Gaucher Disease. (2026/06/01) ♡
- 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. Repurposing Gaucher disease therapy for Saposin C deficiency: Proof-of-concept with eliglustat. (2026/06/01) ♡
- Early enzyme replacement therapy in late-onset Pompe disease diagnosed by newborn screening. (2026/06/01) ♡
- A sensitive LC‑MS/MS method for the simultaneous quantification of hexosylceramides and hexosylsphingosines, their precursors and metabolites in cells, plasma, and tissue homogenates. (2026/06/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Recurrence of monozygotic twinning after single-embryo transfer with preimplantation genetic testing: a case report. (2026/06/01) ♡
- Correction to "Evaluation of Induced Pluripotent Stem Cell-Derived Dopaminergic Neurons from Siblings with Gaucher Disease Discordant for Parkinsonism". (2026/06/01) ♡
- Nrf2/NOX2 Pathway Dysregulation and Oxidative Stress Biomarkers in Gaucher Disease-Associated Parkinsonism: Insights Into a Potential Therapeutic Target. (2026/06/01) ♡
- Establishment of an N-Glycan Profiling Method for Three ERT Enzymes Used in Gaucher Disease Therapy. (2026/06/01) ♡
- Age-Specific Parkinson Disease Risk in Gaucher Disease Type 1: Data From the ICGG Gaucher Registry. (2026/05/26) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Risk Is Not Destiny: Unmasked Penetrance of Parkinson Disease in Gaucher Disease. (2026/05/26) ♡
- [Efficacy and safety of eliglustat tartrate in adults with Gaucher disease type 1]. (2026/05/26) ♡
- 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. From Lysosomal Storage to Neurodegeneration: Sphingolipid Signaling as a Driver of CNS Pathology and Biomarker Strategy in Neuronopathic Gaucher Disease. (2026/05/26) ♡
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