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Fabry 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 evidence only (55)Meta-analysis (9)Treatment guideline (2)Phase 3 study (19)Systematic review (19)Randomized trial (6)Clinical trial (301)Review article (188)Early study (phase 1 or 2) (4)Case report (159)Laboratory or animal study (24)Commentary or editorial (52)Retracted publication (2) Only studies currently seeking participants (25)

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Publications and studies (1330)

• Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy. (2023/12/25) ♡
• Design and Development of Large-Band Dual-MSFA Sensor Camera for Precision Agriculture. (2023/12/22) ♡
• 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. Molecular Pathogenesis of Central and Peripheral Nervous System Complications in Anderson-Fabry Disease. (2023/12/20) ♡
• 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. Disease-specific therapy for the treatment of the cardiovascular manifestations of Fabry disease: a systematic review. (2023/12/15) ♡
• Left atrial remodeling in hypertrophic cardiomyopathy and Fabry disease: A CMR-based head-to-head comparison and outcome analysis. (2023/12/15) ♡
• The Role of α3β1 Integrin Modulation on Fabry Disease Podocyte Injury and Kidney Impairment. (2023/12/14) ♡
• Novel enhancer mediates the RPL36A-HNRNPH2 readthrough loci and GLA gene expressions associated with fabry disease. (2023/12/13) ♡
• 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. Enzyme replacement therapy for late-onset Pompe disease. (2023/12/12) ♡
• Cardiomyocyte Globotriaosylceramide Accumulation in Adult Male Patients with Fabry Disease and IVS4 + 919G>A GLA Mutation is Progressive with Age and Correlates with Left Ventricular Hypertrophy and Reduced Left Ventricular Ejection Fraction. (2023/12/11) ♡
• Clinical utilisation of implantable loop recorders in adults with Fabry disease-a multi-centre snapshot study. (2023/12/08) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Complicated Cutaneous Leishmaniasis in a Patient under Combined Immunosuppression. (2023/12/04) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Clinical manifestation of patients with Fabry disease and R356W GLA variant. (2023/12/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Long-term safety and efficacy of pegunigalsidase alfa: A multicenter 6-year study in adult patients with Fabry disease. (2023/12/01) ♡
• Verification of the efficacy of topical sirolimus gel for systemic rare vascular malformations: a pilot study. (2023/12/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Disruption of the microbiota-gut-brain axis is a defining characteristic of the α-Gal A (-/0) mouse model of Fabry disease. (2023/12/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Hypertrophic obstructive cardiomyopathy caused by Fabry disease: implications for surgical myectomy. (2023/12/01) ♡
• CKD-EPI and EKFC GFR Estimating Equations: Performance and Other Considerations for Selecting Equations for Implementation in Adults. (2023/12/01) ♡
• Fabry disease biomarkers in patients switched from enzyme-replacement therapy to migalastat oral chaperone therapy. (2023/12/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Randall-Type Monoclonal Immunoglobulin Deposition Disease in Bone Scintigraphy. (2023/12/01) ♡
• 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. Prevalence of Fabry disease in patients with chronic kidney disease: A systematic review and meta-analysis. (2023/12/01) ♡
• 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. Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies. (2023/12/01) ♡
• Basal septal T1 mapping and extracellular volume as discriminators in cardiac magnetic resonance evaluation of myocardial involvement in advanced Anderson-Fabry disease: a case description. (2023/12/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Correlation of X chromosome inactivation with clinical presentation of Fabry disease in a case report. (2023/12/01) ♡
• 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. Exosomal miRNAs as Biomarkers of Ischemic Stroke. (2023/11/27) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. In vitro characterization of cells derived from a patient with the GLA variant c.376A>G (p.S126G) highlights a non-pathogenic role in Fabry disease. (2023/11/25) ♡
• 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. Diagnosing Fabry nephropathy: the challenge of multiple kidney disease. (2023/11/21) ♡
• 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. Fabry Disease: More than a Phenocopy of Hypertrophic Cardiomyopathy. (2023/11/13) ♡
• 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. Case report and literature review: Fabry disease misdiagnosing as polymyalgia rheumatica. (2023/11/03) ♡
• Impact of enzyme replacement therapy and migalastat on left atrial strain and cardiomyopathy in patients with Fabry disease. (2023/11/02) ♡
• Asn215Ser, Ala143Thr, and Arg112Cys variants in α-galactosidase A protein confer stability loss in Fabry's disease. (2023/11/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Screening for health-related quality of life and its determinants in Fabry disease: A cross-sectional multicenter study. (2023/11/01) ♡
• c.376A>G, (p.Ser126Gly) Alpha-Galactosidase A mutation induces ER stress, unfolded protein response and reduced enzyme trafficking to lysosome: Possible relevance in the pathogenesis of late-onset forms of Fabry Disease. (2023/11/01) ♡
• 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. Prevalence of Kidney and Urinary Tract Complications in Fabry Disease from 2000 to 2020: A Global Cohort Study Including 10,637 Patients. (2023/11/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Concurrent fabry disease and immunoglobulin a nephropathy: a case report. (2023/11/01) ♡
• Interaction of Fabry Disease and Diabetes Mellitus: Suboptimal Recruitment of Kidney Protective Factors. (2023/11/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A Classical Phenotype of Fabry Disease with Novel Mutation Found by Kidney Biopsy, A Case Report. (2023/11/01) ♡
• Genotype-Phenotype Correlations in 293 Russian Patients with Causal Fabry Disease Variants. (2023/10/28) ♡
• Safety and efficacy of pegunigalsidase alfa in patients with Fabry disease who were previously treated with agalsidase alfa: results from BRIDGE, a phase 3 open-label study. (2023/10/21) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Endothelial Cell Dysfunction and Hypoxia as Potential Mediators of Pain in Fabry Disease: A Human-Murine Translational Approach. (2023/10/21) ♡
• Radiosynthesis and Early Evaluation of a Positron Emission Tomography Imaging Probe [(18)F]AGAL Targeting Alpha-Galactosidase A Enzyme for Fabry Disease. (2023/10/18) ♡
• Clinical significance of small nerve fiber involvement in the early diagnosis and treatment of patients with Fabry disease. (2023/10/15) ♡
• 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. Targeted literature review exploring the predictive value of estimated glomerular filtration rate and left ventricular mass index as indicators of clinical events in Fabry disease. (2023/10/12) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Prognostic Implications of the Extent of Cardiac Damage in Patients With Fabry Disease. (2023/10/10) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Staging of Fabry Cardiomyopathy by Echocardiography: Back to the Roots? (2023/10/10) ♡
• Fabry-Pérot Cavities with Suspended Palladium Membranes on Optical Fibers for Highly Sensitive Hydrogen Sensing. (2023/10/09) ♡
• Correlation of retinal vascular characteristics with laboratory and ocular findings in Fabry disease: exploring ocular diagnostic biomarkers. (2023/10/08) ♡
• 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. Evaluation of a prototype machine learning tool to semi-automate data extraction for systematic literature reviews. (2023/10/06) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Relief of nocturnal neuropathic pain with the use of cannabis in a patient with Fabry disease. (2023/10/06) ♡
• 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. Fabry disease and sleep disorders: a systematic review. (2023/10/05) ♡
• Systems analyses of the Fabry kidney transcriptome and its response to enzyme replacement therapy identified and cross-validated enzyme replacement therapy-resistant targets amenable to drug repurposing. (2023/10/01) ♡

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