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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 (184)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 (33)

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Publications (1051)

• Long- and Short-Term Glucosphingosine (lyso-Gb1) Dynamics in Gaucher Patients Undergoing Enzyme Replacement Therapy. (2024/07/12) ♡
• Fragment-Based Discovery of a Series of Allosteric-Binding Site Modulators of β-Glucocerebrosidase. (2024/07/11) ♡
• 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. A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem. (2024/07/10) ♡
• Autophagic dysregulation triggers innate immune activation in glucocerebrosidase deficiency. (2024/07/08) ♡
• Citrullinated Histone H3, a Marker for Neutrophil Extracellular Traps, Is Associated with Poor Prognosis in Cutaneous Squamous Cell Carcinoma Developing in Patients with Recessive Dystrophic Epidermolysis Bullosa. (2024/07/06) ♡
• Acid sphingomyelinase deficiency and Gaucher disease in adults: Similarities and differences in two macrophage storage disorders. (2024/07/04) ♡
• 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. [Advances in the specific treatments of Gaucher disease]. (2024/07/01) ♡
• The annotation of GBA1 has been concealed by its protein-coding pseudogene GBAP1. (2024/06/28) ♡
• 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. GBA1-Associated Parkinson's Disease Is a Distinct Entity. (2024/06/28) ♡
• Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease. (2024/06/25) ♡
• 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 Liver and Lysosomal Storage Diseases: From Pathophysiology to Clinical Presentation, Diagnostics, and Treatment. (2024/06/19) ♡
• Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient Registry. (2024/06/19) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions. (2024/06/16) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Histologic and ultrastructural study of intracranial Gaucheroma causing deafness in a patient with Gaucher disease type 3: Effects of substrate reduction therapy. (2024/06/14) ♡
• Highly Efficient Ex Vivo Correction of COL7A1 through Ribonucleoprotein-Based CRISPR/Cas9 and Homology-Directed Repair to Treat Recessive Dystrophic Epidermolysis Bullosa. (2024/06/01) ♡
• 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. Lung Diseases and Rare Disorders: Is It a Lysosomal Storage Disease? Differential Diagnosis, Pathogenetic Mechanisms and Management. (2024/05/30) ♡
• Imiglucerase, cholecalciferol, and bone-diet in skeletal health management of type I Gaucher disease patients: a pilot study and systematic review. (2024/05/27) ♡
• Phase 3 studyiResearch in a large group of patients, the final step before a treatment can be approved. What comes out here carries significant weight. Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study. (2024/05/21) ♡
• Economic Burden of Gaucher Disease at a Tertiary Care Public Hospital in Mumbai. (2024/05/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study. (2024/05/01) ♡
• An increase in ER stress and unfolded protein response in iPSCs-derived neuronal cells from neuronopathic Gaucher disease patients. (2024/04/22) ♡
• 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. Long-term safety and efficacy of cipaglucosidase alfa plus miglustat in individuals living with Pompe disease: an open-label phase I/II study (ATB200-02). (2024/04/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Glucose-6-phosphate dehydrogenase deficiency with coinherited Gaucher disease: A rare association. (2024/04/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Late-onset Myoclonic Seizure in a 78-year-old Woman with Gaucher Disease. (2024/03/15) ♡
• Rapid home therapy infusion of velaglucerase alfa in naïve patients with Gaucher disease. (2024/03/01) ♡
• Improving Data Collection in Pregnancy Safety Studies: Towards Standardisation of Data Elements in Pregnancy Reports from Public and Private Partners, A Contribution from the ConcePTION Project. (2024/03/01) ♡
• African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1. (2024/02/24) ♡
• Clinical and Genetic Features of Multiplex Families with Multiple System Atrophy and Parkinson's Disease. (2024/02/01) ♡
• Phase 3 studyiResearch in a large group of patients, the final step before a treatment can be approved. What comes out here carries significant weight. Effect of avalglucosidase alfa on disease-specific and general patient-reported outcomes in treatment-naïve adults with late-onset Pompe disease compared with alglucosidase alfa: Meaningful change analyses from the Phase 3 COMET trial. (2024/02/01) ♡
• Severe CNS involvement in a subset of long-term treated children with infantile-onset Pompe disease. (2024/02/01) ♡
• Lysosomal membrane integrity in fibroblasts derived from patients with Gaucher disease. (2024/01/23) ♡
• Formulated hydroxy fatty acids from fruit pomaces reduce apple scab development caused by Venturia inaequalis through a dual mode of action. (2024/01/08) ♡
• Immunophenotype associated with high sustained antibody titers against enzyme replacement therapy in infantile-onset Pompe disease. (2024/01/04) ♡
• pH-Responsive Trihydroxylated Piperidines Rescue The Glucocerebrosidase Activity in Human Fibroblasts Bearing The Neuronopathic Gaucher-Related L444P/L444P Mutations in GBA1 Gene. (2024/01/02) ♡
• 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. Gene therapy for glycogen storage diseases. (2024/01/01) ♡
• Treatment-naive and post-treatment glucosylsphingosine (lyso-GL1) levels in a cohort of pediatric patients with Gaucher disease. (2024/01/01) ♡
• Proteomics analysis of the brain from a Gaucher disease mouse identifies pathological pathways including a possible role for transglutaminase 1. (2024/01/01) ♡
• 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) ♡

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