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Gaucher disease
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Publications and studies (1230)
- Autochthonous dengue in mainland France, 2022: geographical extension and incidence increase. (2022/11/01) ♡
- Facial features of lysosomal storage disorders. (2022/11/01) ♡
- 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. ACR Appropriateness Criteria® Osteonecrosis: 2022 Update. (2022/11/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Avascular necrosis of the first metatarsal head in adolescence: A case report. (2022/10/28) ♡
- 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. Natural history and management of liver dysfunction in lysosomal storage disorders. (2022/10/27) ♡
- Real-Life Experience with Oral Eliglustat in Patients with Gaucher Disease Previously Treated with Enzyme Replacement Therapy. (2022/10/24) ♡
- Patients' view on gene therapy development for lysosomal storage disorders: a qualitative study. (2022/10/21) ♡
- Longitudinal evaluation of olfactory function in individuals with Gaucher disease and GBA1 mutation carriers with and without Parkinson's disease. (2022/10/18) ♡
- 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. Rare lysosomal disease registries: lessons learned over three decades of real-world evidence. (2022/10/17) ♡
- A Comprehensive Assessment of Qualitative and Quantitative Prodromal Parkinsonian Features in Carriers of Gaucher Disease-Identifying Those at the Greatest Risk. (2022/10/13) ♡
- 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 Disease: An Unusual Cause of Knee Pain. (2022/10/11) ♡
- Targeted Enzymatic VLP-Nanoreactors with β-Glucocerebrosidase Activity as Potential Enzyme Replacement Therapy for Gaucher's Disease. (2022/10/06) ♡
- 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. Potential Role of Sphingolipidoses-Associated Lysosphingolipids in Cancer. (2022/10/05) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Suicidal attempt with eliglustat overdose. (2022/10/04) ♡
- Targeted Screening for Gaucher Disease in High Suspicion Patients and Clinical Profile of Screen Positives in a Large Pediatric Multispecialty Hospital. (2022/10/03) ♡
- Pre- and post-therapeutic evaluation of liver and spleen in type I and type III Gaucher's disease using diffusion tensor imaging. (2022/10/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Cancer risk and gammopathies in 2123 adults with Gaucher disease type 1 in the International Gaucher Group Gaucher Registry. (2022/10/01) ♡
- 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. Exploring the link between GBA1 mutations and Dementia with Lewy bodies, A mini-review. (2022/10/01) ♡
- Early diagnosis of Gaucher disease in Korean patients with unexplained splenomegaly: a multicenter observational study. (2022/09/30) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening. (2022/09/30) ♡
- A multifaceted evaluation of microgliosis and differential cellular dysregulation of mammalian target of rapamycin signaling in neuronopathic Gaucher disease. (2022/09/20) ♡
- Pharmacological Chaperones for GCase that Switch Conformation with pH Enhance Enzyme Levels in Gaucher Animal Models. (2022/09/19) ♡
- 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 of economic evaluations of enzyme replacement therapy in Lysosomal storage diseases. (2022/09/19) ♡
- Parkinson-causing mutations in LRRK2 impair the physiological tetramerization of endogenous α-synuclein in human neurons. (2022/09/16) ♡
- 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. Secondary Mitochondrial Dysfunction as a Cause of Neurodegenerative Dysfunction in Lysosomal Storage Diseases and an Overview of Potential Therapies. (2022/09/12) ♡
- Serum Phospholipid Profile Changes in Gaucher Disease and Parkinson's Disease. (2022/09/08) ♡
- 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. Current Understanding on the Genetic Basis of Key Metabolic Disorders: A Review. (2022/09/02) ♡
- An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients. (2022/09/01) ♡
- 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 treatment options and novel nanotechnology-driven enzyme replacement strategies for lysosomal storage disorders. (2022/09/01) ♡
- 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 mutations and Parkinson disease. (2022/09/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Rapid velaglucerase alfa infusion for Gaucher disease: 5-year data. (2022/09/01) ♡
- Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS). (2022/08/31) ♡
- Screening for potential undiagnosed Gaucher disease patients: Utilisation of the Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS) in conjunction with electronic health record data, tissue specimens, and small nucleotide polymorphism (SNP) genotype data available in Finnish biobanks. (2022/08/27) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Microglia orchestrate neuroinflammation. (2022/08/22) ♡
- 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. Who to Enroll in Parkinson Disease Prevention Trials? The Case for Genetically At-Risk Cohorts. (2022/08/16) ♡
- Neuroinflammation in neuronopathic Gaucher disease: Role of microglia and NK cells, biomarkers, and response to substrate reduction therapy. (2022/08/16) ♡
- Biological Variation in Peripheral Inflammation and Oxidative Stress Biomarkers in Individuals with Gaucher Disease. (2022/08/16) ♡
- Rare disease patients in India are rarely involved in international orphan drug trials. (2022/08/15) ♡
- Comorbidity of long COVID and psychiatric disorders after a hospitalisation for COVID-19: a cross-sectional study. (2022/08/11) ♡
- Elevation of gangliosides in four brain regions from Parkinson's disease patients with a GBA mutation. (2022/08/06) ♡
- The Deficiency of SCARB2/LIMP-2 Impairs Metabolism via Disrupted mTORC1-Dependent Mitochondrial OXPHOS. (2022/08/03) ♡
- Evaluation of the Nutritional Status of Gaucher Disease Type I Patients under Enzyme Replacement Treatment. (2022/08/03) ♡
- 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. Neuronopathic Gaucher disease: Beyond lysosomal dysfunction. (2022/08/03) ♡
- Real-world patient data on immunity and COVID-19 status of patients with MPS, Gaucher, and Pompe diseases from Turkey. (2022/08/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Reply to: "Could Blood Hexosylsphingosine Be a Marker for Parkinson's Disease Linked with GBA1 Mutations"? (2022/08/01) ♡
- β-Glucocerebrosidase Deficiency Activates an Aberrant Lysosome-Plasma Membrane Axis Responsible for the Onset of Neurodegeneration. (2022/07/29) ♡
- 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. [Pharmacological chaperone therapy for the treatment of inborn errors of metabolism]. (2022/07/20) ♡
- Qualitative analysis of patient interviews on the burden of neuronopathic Gaucher disease in Japan. (2022/07/19) ♡
- A versatile fluorescence-quenched substrate for quantitative measurement of glucocerebrosidase activity within live cells. (2022/07/19) ♡
- Neuronal activity induces glucosylceramide that is secreted via exosomes for lysosomal degradation in glia. (2022/07/15) ♡
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