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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. An Exploratory Clinical Trial of VGN-R08b in Patients With Type II Gaucher Disease (2024-02-22) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study of VPRIV in Participants With Gaucher Disease Previously Treated With Other Enzyme Replacement Therapies or Substrate Reduction Therapies (2024-02-02) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Lentiviral Vector Gene Therapy - The Guard1 Trial of AVR-RD-02 for Subjects With Type 1 Gaucher Disease (2024-01-18) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Role of Vitamin E in Gaucher Disease Patients (2024-01-18) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study to Evaluate Pharmacokinetic Parameters of Eliglustat in Healthy Volunteers Who Are CYP2D6 Extensive or Poor Metabolizers (2024-01-10) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study to Evaluate Pharmacokinetic Parameters and Safety of Eliglustat Absorption Through the Mouth (2024-01-05) ♡
- Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy. (2023/12/25) ♡
- An AAV capsid reprogrammed to bind human Transferrin Receptor mediates brain-wide gene delivery. (2023/12/22) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Autophagic dysfunction and gut microbiota dysbiosis cause chronic immune activation in a Drosophila model of Gaucher disease. (2023/12/21) ♡
- 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. Lipids as Emerging Biomarkers in Neurodegenerative Diseases. (2023/12/21) ♡
- Clinical-radiological-pathological correlation in pulmonary hypertension with unclear and/or multifactorial mechanisms. (2023/12/20) ♡
- 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. Green Biologics: Harnessing the Power of Plants to Produce Pharmaceuticals. (2023/12/17) ♡
- Real life data: follow-up assessment on Spanish Gaucher disease patients treated with eliglustat. TRAZELGA project. (2023/12/15) ♡
- Cancer Risk in Patients with Gaucher Disease Using Real-World Data. (2023/12/15) ♡
- 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. Gaucher Disease. (2023/12/07) ♡
- Skeletal Manifestations, Bone Pain, and BMD Changes in Albanian Type 1 Gaucher Patients Treated with Taliglucerase Alfa. (2023/12/04) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Long-term safety and efficacy of pegunigalsidase alfa: A multicenter 6-year study in adult patients with Fabry disease. (2023/12/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Gaucher disease prevalence in 600 patients affected by monoclonal gammopathy of undetermined significance. (2023/12/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Establishment of MUi030-A: A human induced pluripotent stem cell line carrying homozygous L444P mutation in the GBA1 gene to study type-3 Gaucher disease. (2023/12/01) ♡
- Quantitation and characterization of glucosylsphingosine in cerebrospinal fluid (CSF), plasma, and brain of monkey model with Gaucher disease. (2023/12/01) ♡
- 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. Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospects. (2023/12/01) ♡
- Lysoglycosphingolipids have the ability to induce cell death through direct PI3K inhibition. (2023/12/01) ♡
- 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. Gaucher Disease. (2023/12/01) ♡
- 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 international cooperative Gaucher group (ICCG) Gaucher registry. (2023/12/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A rare disease in adult women: Gaucher disease. (2023/12/01) ♡
- 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. Examining the Role of a Functional Deficiency of Iron in Lysosomal Storage Disorders with Translational Relevance to Alzheimer's Disease. (2023/11/16) ♡
- Identification of novel glucocerebrosidase chaperones by unexpected skeletal rearrangement reaction. (2023/11/15) ♡
- Gaucher Disease. (2023/11/12) ♡
- 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. Animal Models for the Study of Gaucher Disease. (2023/11/07) ♡
- 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-like Cells in Thalassemia Intermedia: Is It a Challenge? (2023/11/06) ♡
- Patient reported outcomes of patients with Gaucher disease type 1 treated with eliglustat in real-world settings: The ELIPRO study. (2023/11/01) ♡
- Oro-dental phenotyping and report of three families with RELT-associated amelogenesis imperfecta. (2023/11/01) ♡
- Effectiveness and Safety of Eliglustat Treatment in Gaucher Disease: Real-life Unicentric Experience. (2023/11/01) ♡
- Phenotypic effect of GBA1 variants in individuals with and without Parkinson's disease: The RAPSODI study. (2023/11/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Safety outcomes and patients' preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 and beyond. (2023/10/27) ♡
- Evaluation of the Immunoprotective Capacity of Five Vaccine Candidate Proteins against Avian Necrotic Enteritis and Impact on the Caecal Microbiota of Vaccinated Birds. (2023/10/26) ♡
- Is Gauchian genotyping of GBA1 variants reliable? (2023/10/26) ♡
- Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study. (2023/10/22) ♡
- Tau accumulation in degradative organelles is associated to lysosomal stress. (2023/10/21) ♡
- Development of a new online SPE-HPLC-MS/MS method for the profiling and quantification of sphingolipids and phospholipids in red blood cells - Application to the study of Gaucher's disease. (2023/10/16) ♡
- Glucocerebrosidase mutations disrupt the lysosome and now the mitochondria. (2023/10/11) ♡
- Axonal Transport of Lysosomes Is Unaffected in Glucocerebrosidase-Inhibited iPSC-Derived Forebrain Neurons. (2023/10/10) ♡
- Follow-up of pre-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1 and analysis of their lysosomal enzyme profiles in the CSF. (2023/10/02) ♡
- [Diagnosis and treatment of pediatric Gaucher disease]. (2023/10/02) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. A synchronous therapy with daratumumab and enzymatic replacement therapy (ERT) in a patient with Gaucher disease and multiple myeloma. (2023/10/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Revisiting the diagnosis of Gaucher disease in a family with multiple GBA1 variants. (2023/10/01) ♡
- Restoration of β-GC trafficking improves the lysosome function in Gaucher disease. (2023/10/01) ♡
- Measurement Properties of 2 Novel PROs, the Pompe Disease Symptom Scale and Pompe Disease Impact Scale, in the COMET Study. (2023/10/01) ♡
- Structural basis for inhibition of a GH116 β-glucosidase and its missense mutants by GBA2 inhibitors: Crystallographic and quantum chemical study. (2023/10/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Seeing beyond Gaucher disease: Early detection and treatment of ocular complications. (2023/10/01) ♡
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