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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)

• 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 in a patient with membranoproliferative glomerulonephritis: case report. (2023/09/29) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Histologically atypical case of Gaucher disease type 1. (2023/09/29) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Noninvasive DBS-Based Approaches to Assist Clinical Diagnosis and Treatment Monitoring of Gaucher Disease. (2023/09/29) ♡
• Biofabrication of an in-vitro bone model for Gaucher disease. (2023/09/22) ♡
• Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients. (2023/09/22) ♡
• Changing clinical manifestations of Gaucher disease in Taiwan. (2023/09/15) ♡
• 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. Defining the glucosylceramide population of C. elegans. (2023/09/13) ♡
• Real-World Experiences with Taliglucerase Alfa Home Infusions for Patients with Gaucher Disease: A Global Cohort Study. (2023/09/12) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Extensive cardiovascular involvement in a young boy with Gaucher's disease: a case report. (2023/09/11) ♡
• Development of a rare disease algorithm to identify persons at risk of Gaucher disease using electronic health records in the United States. (2023/09/09) ♡
• GBA1 variants in Brazilian Gaucher disease patients. (2023/09/09) ♡
• 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 involvement of Purkinje cells in progressive myoclonic epilepsy: Focus on neuronal ceroid lipofuscinosis. (2023/09/01) ♡
• Retracted publicationiThis research has been withdrawn by science itself, for example due to a flaw in the method or unreliable data. Do not use it as support and do not discuss it as evidence. Incidence of Pulmonary and Respiratory Conditions in Gaucher Disease from 2000 to 2020: A Multi-institutional Cohort Study. (2023/09/01) ♡
• 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. Monitoring and Management of Respiratory Function in Pompe Disease: Current Perspectives. (2023/09/01) ♡
• Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study. (2023/08/30) ♡
• 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. Patient-reported outcomes in Gaucher's disease: a systematic review. (2023/08/25) ♡
• 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 Complexities of Diagnosis with Co-Existing Gaucher Disease and Hemato-Oncology-A Case Report and Review of the Literature. (2023/08/25) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Dual diagnosis of trisomy 21 and lethal perinatal Gaucher disease as a cause of non-immune hydrops fetalis in a twin pregnancy for a consanguineous couple. (2023/08/23) ♡
• 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. Management goals of type 1 Gaucher disease in South Africa: An expert Delphi consensus document on good clinical practice. (2023/08/22) ♡
• A Deep-Learning Approach to Spleen Volume Estimation in Patients with Gaucher Disease. (2023/08/18) ♡
• A new multiplex analysis of glucosylsphingosine and globotriaosylsphingosine in dried blood spots by tandem mass spectrometry. (2023/08/18) ♡
• Screening data from 19 patients with late-onset Pompe disease for a phase I clinical trial of AAV8 vector-mediated gene therapy. (2023/08/17) ♡
• 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. Joint manifestations revealing inborn metabolic diseases in adults: a narrative review. (2023/08/10) ♡
• Anesthetic Approaches and Perioperative Complications of Total Hip Arthroplasty in Gaucher Disease: A Control-Matched Retrospective-Cohort Study. (2023/08/10) ♡
• 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. Therapeutic Role of Pharmacological Chaperones in Lysosomal Storage Disorders: A Review of the Evidence and Informed Approach to Reclassification. (2023/08/07) ♡
• Glycoprotein non-metastatic protein B (GPNMB) plasma values in patients with chronic visceral acid sphingomyelinase deficiency. (2023/08/01) ♡
• Burden of caregivers of patients with neuronopathic and non-neuronopathic Gaucher disease in Japan: A survey-based study. (2023/08/01) ♡
• The Erlenmeyer Flask Deformity on Computed Tomography. (2023/08/01) ♡
• Double Trouble: Association of Malignant Melanoma with Sporadic and Genetic Forms of Parkinson's Disease and Asymptomatic Carriers of Related Genes: A Brief Report. (2023/07/25) ♡
• Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency. (2023/07/21) ♡
• A global neuronopathic gaucher disease registry (GARDIAN): a patient-led initiative. (2023/07/21) ♡
• The Ins and Outs of Endosteal Niche Disruption in the Bone Marrow: Relevance for Myeloma Oncogenesis. (2023/07/12) ♡
• Exploring the Pathophysiologic Cascade Leading to Osteoclastogenic Activation in Gaucher Disease Monocytes Generated via CRISPR/Cas9 Technology. (2023/07/07) ♡
• 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. Realization of Amyloid-like Aggregation as a Common Cause for Pathogenesis in Diseases. (2023/07/07) ♡
• Elements to assess the quality of information of case reports in pregnancy pharmacovigilance data-a ConcePTION project. (2023/06/29) ♡
• Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis. (2023/06/01) ♡
• Genome-wide Association Identifies Novel Etiological Insights Associated with Parkinson's Disease in African and African Admixed Populations. (2023/05/07) ♡
• Meta-analysisiAll studies on one question combined and calculated together. This is the strongest form of research that exists: a single loose study can be coincidence, dozens together much less so. The label says something about the design, not about the outcome — which can also be that something does NOT work. Global Epidemiology of Gaucher Disease: an Updated Systematic Review and Meta-analysis. (2023/05/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Dual enzyme therapy improves adherence to chemotherapy in a patient with gaucher disease and Ewing sarcoma. (2023/05/01) ♡
• Gaucher Disease Type 2 Manifested as Hemophagocytic Lymphohistiocytosis in a Neonate in the COVID-19 Era. (2023/05/01) ♡
• Characterization of peripheral blood T follicular helper (TFH) cells in patients with type 1 Gaucher disease and carriers. (2023/05/01) ♡
• COVID-19 and Vaccination Status in Lysosomal Storage Diseases: A Single-Center Experience. (2023/05/01) ♡
• Clinico-Etiological Spectrum and Functional Outcomes of Children with Pre-Status Dystonicus and Status Dystonicus (SD): A Descriptive Study. (2023/05/01) ♡
• Alpha-Synuclein mRNA Level Found Dependent on L444P Variant in Carriers and Gaucher Disease Patients on Enzyme Replacement Therapy. (2023/04/03) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Radiographic Cortical Thickness Index Predicts Fragility Fracture in Gaucher Disease. (2023/04/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Combined saposin deficiency: A rare occurrence. (2023/03/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Ichthyosis, petechiae, and arthrogryposis in a neonate. (2023/03/01) ♡
• Comprehensive and long-term outcomes of enzyme replacement therapy followed by stem cell transplantation in children with Gaucher disease type 1 and 3. (2023/03/01) ♡
• A 20-Year Longitudinal Study of Plasma Chitotriosidase Activity in Treated Gaucher Disease Type 1 and 3 Patients-A Qualitative and Quantitative Approach. (2023/02/24) ♡
• 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 lethal Gaucher disease: A case report and review of literature. (2023/02/01) ♡

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