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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 (183)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 (32)

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Publications and studies (1229)

• Commentary or editorialiAn expert's opinion or commentary, not new research. Addressing feature importance biases in machine learning models for early diagnosis of type 1 Gaucher disease. (2025/02/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Tongue Fasciculations and Upper Motor Neuron Signs in Infantile-Onset Type 2 Gaucher Disease: Correspondence. (2025/02/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Tongue Fasciculations and Upper Motor Neuron Signs in Infantile-Onset Type 2 Gaucher Disease: Authors' Reply. (2025/02/01) ♡
• Vitreous opacities and retinal deposits in Gaucher disease type I. (2025/02/01) ♡
• 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. Current opinion on pluripotent stem cell technology in Gaucher's disease: challenges and future prospects. (2025/02/01) ♡
• Deciphering metabolic shifts in Gaucher disease type 1: a multi-omics study. (2025/02/01) ♡
• Digital microfluidic platform for dried blood spot newborn screening of lysosomal storage diseases in Campania region (Italy): Findings from the first year pilot project. (2025/02/01) ♡
• 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. Eliglustat Therapy and CYP2D6 Genotype. (2025/01/17) ♡
• Multivalent GCase Enhancers: Synthesis and Evaluation of Glyco-Gold Nanoparticles Decorated with Trihydroxypiperidine Iminosugars. (2025/01/15) ♡
• A core outcome set for maternal and neonatal health research and surveillance of emerging and ongoing epidemic threats (MNH-EPI-COS): a modified Delphi-based international consensus. (2025/01/15) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Tongue Fasciculations and Upper Motor Neuron Signs in Infantile-Onset Type 2 Gaucher Disease. (2025/01/01) ♡
• Treatment guidelineiAn official agreement between doctors about how this disease should be treated. This is not a single study but the conclusion of an entire medical field. Biomarker testing for lysosomal diseases: A technical standard of the American College of Medical Genetics and Genomics (ACMG). (2025/01/01) ♡
• 3D structural insights into the effect of N-glycosylation in human chitotriosidase variant G102S. (2025/01/01) ♡
• Hydrogen peroxide diffusion across the red blood cell membrane occurs mainly by simple diffusion through the lipid fraction. (2025/01/01) ♡
• Effective encapsulation of therapeutic recombinant enzyme into polymeric nanoparticles as a potential vehicle for lysosomal disease treatment. (2025/01/01) ♡
• Randomized researchiParticipants were divided into groups by lottery and compared with each other. This reduces the chance that a difference is due to something other than the treatment. A 6-month randomized controlled trial for vitamin E supplementation in pediatric patients with Gaucher disease: Effect on oxidative stress, disease severity and hepatic complications. (2025/01/01) ♡
• Tumor Suppressor and Oncogenic miRNA Expressions in Patients with Type I Gaucher Disease and Carriers. (2025/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. [Application of umbilical cord mesenchymal stem cells in the treatment of severe immune-mediated thrombocytopenia after allogeneic hematopoietic stem cell transplantation in children]. (2025/01/01) ♡
• 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. Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT (2025-12-15) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Long Term Follow-up Study of Type-1 Gaucher Subjects Post FLT201 Dose (GALILEO-2) (2025-11-04) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Non-Interventional National Study in Pediatric Patients With Unexplained Enlarged Spleen (2025-09-23) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Long-term Follow-up Study of Gaucher Disease (2025-09-22) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study to Evaluate Efficacy and Safety of Imiglucerase Treatment in Chinese Patients With Gaucher Disease Type Ⅲ (2025-09-15) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Baby Detect : Genomic Newborn Screening (2025-08-12) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Long Term Follow-Up for Safety of AVR-RD-02 (2025-07-22) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Omics Gaucher Study: Multiomic Approach (2025-06-26) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study of Velaglucerase Alfa (VPRIV) in Chinese Children, Teenagers, and Adults With Type 1 Gaucher Disease (2025-06-26) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. The GBA Multimodal Study in Parkinson's Disease (2025-05-31) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Drug Discovery for Parkinson's With Mutations in the GBA Gene (2025-03-03) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study of the Safety and Preliminary Efficacy of LY-M001 Injection in the Treatment of Adult Patients With Gaucher Disease Type I (2025-02-14) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Clinical Study to Evaluate the Long Term Efficacy, Safety and Tolerability of Miglustat in Patients With Stable Type 1 Gaucher Disease (2025-02-04) ♡
• Developing Allosteric Chaperones for GBA1-Associated Disorders-An Integrated Computational and Experimental Approach. (2024/12/24) ♡
• Thyroid Function and Morphology in Gaucher Disease: Exploring the Endocrine Implications. (2024/12/20) ♡
• UPLC-MS/MS High-Risk Screening for Sphingolipidoses Using Dried Urine Spots. (2024/12/17) ♡
• 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. An Overview of Gaucher Disease. (2024/12/17) ♡
• Bimodal Array-Based Fluorescence Sensor and Microfluidic Technology for Protein Fingerprinting and Clinical Diagnosis. (2024/12/16) ♡
• Health care costs of home care enzyme replacement therapy for patients with lysosomal storage diseases in Germany. (2024/12/16) ♡
• 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. Velaglucerase alfa. (2024/12/15) ♡
• 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. Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease. (2024/12/13) ♡
• In silico biophysics and rheology of blood and red blood cells in Gaucher Disease. (2024/12/12) ♡
• A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE). (2024/12/05) ♡
• Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome. (2024/12/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Presentation of ichthyosis after substrate reduction therapy in Gaucher type 1. (2024/12/01) ♡
• Eye closure-induced seizures in Gaucher disease and progressive myoclonus epilepsy. (2024/12/01) ♡
• Enzyme replacement therapy improves erythropoiesis and iron dysregulation in Gaucher disease. (2024/12/01) ♡
• Unlike other medical conditions, type 2 diabetes is a risk factor for new-onset major depression after COVID-19. (2024/12/01) ♡
• 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. [Medical and surgical treatment of acute postoperative endophthalmitis]. (2024/12/01) ♡
• African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1. (2024/12/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Different and unusual presentation of Gaucher's disease with the same mutation in the glucocerebrosidase enzyme (F266L) in two patients: a case report. (2024/11/21) ♡
• The Unmet Needs of Lysosomal Storage Disorders from Early Diagnosis to Caregiving Pathways: An Italian Perspective. (2024/11/20) ♡

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