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Gaucher disease
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Publications and studies (1229)
- Transition Readiness Assessment Questionnaire: A Tool Associated With Transfer Success for Adolescents and Young Adults Living With Sickle Cell Disease? (2026/02/18) ♡
- Neutral sp(2)-iminosugars exploiting non-glycone interactions for selective acid α- and β-glucosidase activity modulation: Pharmacological chaperones for Gaucher and Pompe diseases. (2026/02/15) ♡
- 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. Taliglucerase alfa. (2026/02/15) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Chronic Myeloid Leukemia Transforming into Acute Lymphoblastic Leukemia in a Patient with Gaucher Disease: A Case Report and Literature Review. (2026/02/12) ♡
- 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. Glucosylsphingosine (Lyso-Gb1): An Update on Its Use as a Biomarker in Gaucher Disease. (2026/02/10) ♡
- 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. Investigating the therapeutic profile of velaglucerase alfa in paediatric patients with Gaucher disease: a systematic review across all paediatric age groups. (2026/02/05) ♡
- Clinical implications of expanded carrier screening for pregnancy-related care and individual health. (2026/02/01) ♡
- Unveiling the hidden burden: challenges and spectrum of inborn errors of metabolism in LMICs. (2026/02/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Unexpected Gaucher disease in a case of steroid-resistant nephrotic syndrome. (2026/02/01) ♡
- Miglustat as a Treatment for Adults with Tangier Disease Neuropathy: The MUSTANG N-of-1 Trial with 21 months Clinical Observation. (2026/02/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Markers of Inflammation and Autoinflammation in Patients With Gaucher Disease: A Single-Center Observational Study. (2026/02/01) ♡
- 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. [Bone infarctions-from pathophysiology to imaging]. (2026/02/01) ♡
- Expert Consensus on Characteristics, Etiology, and Management of Chorioretinal Atrophy in Patients Treated with Voretigene Neparvovec. (2026/01/29) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Case Report: Progressive myoclonus epilepsy as an early manifestation of neuronopathic Gaucher disease. (2026/01/27) ♡
- Exploring the long-term use of ambroxol in Gaucher disease type 2: insights from two pediatric cases. (2026/01/23) ♡
- 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. N-Alkyl Derivatives of Deoxynojirimycin (DNJ) as Antiviral Agents: Overview and Update. (2026/01/23) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Unveiling an Uncommon Glucosylceramidase (GBA) Mutation: Gaucher Disease Due to p.Ser276Phe Substitution. (2026/01/13) ♡
- Addition of Lyso-Gb1 to enzyme activity to first-tier test for Gaucher in DBS improves diagnostic accuracy and reduces patient recall rate. (2026/01/01) ♡
- Selenoureido-N-alkyl-3,4,5-trihydroxypiperidines: probing their dual-target role in Gaucher disease. (2026/01/01) ♡
- 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. Perinatal-Onset Neuronopathic Gaucher Disease Is Refractory to High-Dose Ambroxol: A Case Report and Literature Review. (2026/01/01) ♡
- Neoantigenic properties of TP53 variants influence cancer risk in individuals with Li-Fraumeni syndrome. (2026/01/01) ♡
- New multiplex LC-MS/MS method for lipid biomarker analysis of inherited neurodegenerative metabolic diseases. (2026/01/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Concurrent Iliac Aneurysm in a Case of Gaucher's Disease: A Rare Occurrence. (2026/01/01) ♡
- Reference intervals for lysosomal glucocerebrosidase activity in the healthy population. (2026/01/01) ♡
- 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. A Clinical Study for the Treatment of Pediatric and Adolescent Patients With Type 1 Gaucher Disease (2026-08-10) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders (2026-08-07) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. MAGNETIC RESONANCE SPECTROSCOPY BIOMARKERS IN TYPE 3 GAUCHER DISEASE (GD3) (2026-08-04) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Genetic Studies of Lysosomal Storage Disorders (2026-07-31) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program (2026-07-28) ♡
- 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 First-in-Human, Single- and Multiple-Ascending Dose Study of YH35995 in Healthy Adult Male Participants (2026-07-28) ♡
- 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 to Evaluate the Efficacy and Safety of Nizubaglustat (AZ-3102) in Patients With Gaucher Disease Type 3 (GD3) (2026-07-20) ♡
- 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 1/2a Clinical Trial of PR001 (LY3884961) in Patients With Parkinson's Disease With at Least One GBA1 Mutation (PROPEL) (2026-07-16) ♡
- 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. A Gaucher Disease Gene Therapy Trial With FLT201 (2026-07-13) ♡
- 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. Study to Evaluate the Efficacy and Safety of Venglustat in Adult and Pediatric Patients With Gaucher Disease Type 3 (2026-07-13) ♡
- 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 Trial of PR001 (LY3884961) in Patients With Peripheral Manifestations of Gaucher Disease (PROCEED) (2026-07-13) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Oxidative Stress and Inflammatory Biomarkers in Gaucher Disease (2026-07-13) ♡
- 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. Venglustat in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 With Venglustat Monotherapy Extension (2026-07-10) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Managed Access Program of Venglustat in Pediatric and Adult Patients With Type 3 Gaucher Disease (GD3). (2026-06-30) ♡
- 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. 4SCAR-T Therapy Targeting GD2, PSMA and CD276 for Treating Neuroblastoma (2026-06-22) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Positron Emission Tomography (PET) Imaging in People With Gaucher Mutations (2026-06-18) ♡
- 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. Safety and Efficacy of Eliglustat With or Without Imiglucerase in Pediatric Patients With Gaucher Disease (GD) Type 1 and Type 3 (2026-06-16) ♡
- 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 Gene Therapy Study in Patients With Gaucher Disease Type 1 (2026-06-02) ♡
- 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 Phase I/II Clinical Study to Evaluate the Safety and Efficacy of VGN-R08b in Patients With Type III Gaucher's Disease (2026-05-22) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Gaucher Disease Outcome Survey (GOS) (2026-05-14) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. World Data on Ambroxol for Patients With GD and GBA Related PD (2026-04-29) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Prodromal Parkinsonian Features in GBA1 Mutation Carriers (2026-04-29) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. International Collaborative Gaucher Group (ICGG) Gaucher Disease Registry & Pregnancy Sub-registry (2026-04-14) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Registry of Patients Diagnosed With Lysosomal Storage Diseases (2026-04-08) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Extracellular Vesicles as Potential Biomarkers and Therapeutic Target in Gaucher Disease (2026-04-06) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Survey to Assess Participants', Caregivers', and Nurses' Use and Understanding of Educational Material on Velaglucerase Alfa (VPRIV) Home Infusion (2026-04-03) ♡
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