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Gaucher disease
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Publications and studies (1230)
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. New correlations between ocular parameters and disease severity in Spanish patients with Gaucher's disease Type I. (2021/12/06) ♡
- Long-term safety and effectiveness of velaglucerase alfa in Gaucher disease: 6-year interim analysis of a post-marketing surveillance in Japan. (2021/12/04) ♡
- [Expert consensus on diagnosis and treatment of pediatric Gaucher disease (2021)]. (2021/12/02) ♡
- Gene expression with corresponding pathways analysis in Gaucher disease. (2021/12/01) ♡
- 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. Glucocerebrosidase 1 and leucine-rich repeat kinase 2 in Parkinson disease and interplay between the two genes. (2021/12/01) ♡
- TRIP12 ubiquitination of glucocerebrosidase contributes to neurodegeneration in Parkinson's disease. (2021/12/01) ♡
- The remote assessment of parkinsonism supporting the ongoing development of interventions in Gaucher disease. (2021/12/01) ♡
- Genetic Analysis of Acid β-Glucosidase in Patients with Multiple Myeloma from Central Taiwan: A Small-Cohort Case-Control Study. (2021/11/29) ♡
- Design, Synthesis and Structural Analysis of Glucocerebrosidase Imaging Agents. (2021/11/25) ♡
- Glitazone Treatment Rescues Phenotypic Deficits in a Fly Model of Gaucher/Parkinson's Disease. (2021/11/25) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. C-X-C Motif Chemokine Ligand 9 and Its CXCR3 Receptor Are the Salt and Pepper for T Cells Trafficking in a Mouse Model of Gaucher Disease. (2021/11/24) ♡
- Neurocognitive profile of adults with the Norrbottnian type of Gaucher disease. (2021/11/21) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Jaw involvement in Gaucher disease: a not-so-uncommon feature of a rare disease. (2021/11/16) ♡
- Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease. (2021/11/11) ♡
- Xylose-Configured Cyclophellitols as Selective Inhibitors for Glucocerebrosidase. (2021/11/03) ♡
- 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. Neonatal cholestasis and Niemann-pick type C disease: A literature review. (2021/11/01) ♡
- A new brain-penetrant glucosylceramide synthase inhibitor as potential Therapeutics for Gaucher disease. (2021/11/01) ♡
- Glucocerebrosidase mutations: A paradigm for neurodegeneration pathways. (2021/11/01) ♡
- Progranulin associates with Rab2 and is involved in autophagosome-lysosome fusion in Gaucher disease. (2021/11/01) ♡
- Clinical-genetic characteristics and treatment outcomes of Turkish children with Gaucher disease type 1 and type 3: A sixteen year single-center experience. (2021/11/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Reticular dysgenesis exacerbated by hemophagocytic lymphohistiocytosis and the presence of unusual histiocyte-like cells in bone marrow. (2021/11/01) ♡
- Investigation of a dysmorphic facial phenotype in patients with Gaucher disease types 2 and 3. (2021/11/01) ♡
- Cellular and biochemical response to chaperone versus substrate reduction therapies in neuropathic Gaucher disease. (2021/10/25) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Multiple de novo gene variations in a progeroid phenotype case report: haploinsufficiency mechanisms. (2021/10/25) ♡
- 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. Do Not Miss the (Genetic) Diagnosis of Gaucher Syndrome: A Narrative Review on Diagnostic Clues and Management in Severe Prenatal and Perinatal-Lethal Sporadic Cases. (2021/10/23) ♡
- 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. A Systematic Review and Meta-Analysis of Enzyme Replacement Therapy in Late-Onset Pompe Disease. (2021/10/21) ♡
- iPSC-Derived Gaucher Macrophages Display Growth Impairment and Activation of Inflammation-Related Cell Death. (2021/10/21) ♡
- In-depth phenotyping for clinical stratification of Gaucher disease. (2021/10/14) ♡
- Counseling for personal health implications identified during reproductive genetic carrier screening. (2021/10/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Pediatric Gaucher disease with intermediate type 2-3 phenotype associated with parkinsonian features and levodopa responsiveness. (2021/10/01) ♡
- Chitotriosidase as a biomarker for gangliosidoses. (2021/10/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A Japanese Patient with Gaucher Disease Treated with the Oral Drug Eliglustat as Substrate Reducing Therapy. (2021/09/28) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A zebrafish screen reveals Renin-angiotensin system inhibitors as neuroprotective via mitochondrial restoration in dopamine neurons. (2021/09/22) ♡
- Inhibition of microglial β-glucocerebrosidase hampers the microglia-mediated antioxidant and protective response in neurons. (2021/09/22) ♡
- Lipid-mimicking phosphorus-based glycosidase inactivators as pharmacological chaperones for the treatment of Gaucher's disease. (2021/09/20) ♡
- Piperidine Azasugars Bearing Lipophilic Chains: Stereoselective Synthesis and Biological Activity as Inhibitors of Glucocerebrosidase (GCase). (2021/09/17) ♡
- Design and Validation of a Custom NGS Panel Targeting a Set of Lysosomal Storage Diseases Candidate for NBS Applications. (2021/09/17) ♡
- Protein structural features predict responsiveness to pharmacological chaperone treatment for three lysosomal storage disorders. (2021/09/16) ♡
- C5a Activates a Pro-Inflammatory Gene Expression Profile in Human Gaucher iPSC-Derived Macrophages. (2021/09/14) ♡
- Pulmonary Involvement Responsive to Enzyme Replacement Therapy in an Elderly Patient with Gaucher Disease. (2021/09/08) ♡
- 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. Plant-Based COVID-19 Vaccines: Current Status, Design, and Development Strategies of Candidate Vaccines. (2021/09/06) ♡
- Substrate Reduction Therapy Reverses Mitochondrial, mTOR, and Autophagy Alterations in a Cell Model of Gaucher Disease. (2021/09/02) ♡
- Estimating the prevalence of Niemann-Pick disease type C (NPC) in the United States. (2021/09/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Perinatal-lethal Gaucher disease presenting with blueberry muffin lesions. (2021/09/01) ♡
- Impact of the COVID-19 pandemic on the standard of care for patients with lysosomal storage diseases: A survey of healthcare professionals in the Fabry, Gaucher, and Hunter Outcome Survey registries. (2021/09/01) ♡
- Family caregivers of rare disease: A survey on health-related quality of life in family caregivers for Gaucher disease patients in China. (2021/09/01) ♡
- Sustained Remission of Chronic Inflammatory Demyelinating Polyradiculoneuropathy Associated With Celiac Disease After Immunotherapy and Gluten-Free Diet. (2021/09/01) ♡
- Detecting lysosomal storage disorders by glycomic profiling using liquid chromatography mass spectrometry. (2021/09/01) ♡
- Lysosomal Storage Disorders: Clinical, Biochemical and molecular profile from Rare disease centre, India. (2021/09/01) ♡
- Incremental biomarker and clinical outcomes after switch from enzyme therapy to eliglustat substrate reduction therapy in Gaucher disease. (2021/08/28) ♡
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