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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 (1076)

• Non-Pulmonary Vein Substrate Ablation of Recurrent Atrial Fibrillation in the Patient With Fabry Disease. (2025/09/21) ♡
• Cardiac Phenotypes in Fabry Disease: Genetic Variability and Clinical Severity Staging Correlation in a Reference Center Cohort. (2025/09/15) ♡
• Longitudinal imaging of therapeutic enzyme expression after gene therapy for Fabry disease using positron emission tomography and the radiotracer [(18)F]AGAL. (2025/09/03) ♡
• Increased macrolide resistance in Streptococcus pneumoniae in Slovakia may be linked to increased macrolide consumption. (2025/09/01) ♡
• 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. Cardiac manifestations of Fabry disease. (2025/08/01) ♡
• Identification of genetic variants associated with Fabry nephropathy progression using whole-exome sequencing. (2025/08/01) ♡
• Prevalence of lysosomal storage disease (LSD) in Malaysia. (2025/08/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Physical performance and nutritional status in patients with Fabry disease: study design of an Italian multicenter cross-sectional study. (2025/07/01) ♡
• Comparison of two genetic strategies for diagnostic work-up of hypertrophic cardiomyopathy: impact on the diagnosis of Fabry disease or transthyretin amyloidosis. (2025/06/10) ♡
• Early genetic screening and cardiac intervention in patients with cardiomyopathies in a multidisciplinary clinic. (2025/06/01) ♡
• 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. The use and performance of lyso-Gb3 for the diagnosis and monitoring of Fabry disease: A systematic literature review. (2025/06/01) ♡
• Screening for Fabry disease in patients with hypertrophic cardiomyopathy using cardiac magnetic resonance imaging. (2025/05/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Western diet since adolescence impairs brain functional hyperemia at adulthood in mice: rescue by a balanced ω-3:ω-6 polyunsaturated fatty acids ratio. (2025/05/01) ♡
• 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. Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review. (2025/05/01) ♡
• "Real world" medical care of patients with Fabry disease by primary care physicians, internists or general practitioners. (2025/04/30) ♡
• A 1-Bag/4-Step Rapid Desensitization Protocol to Reintroduce Agalsidase α in a Patient With Fabry Disease. (2025/04/22) ♡
• Long-term enzyme replacement therapy in Fabry patients protects against oxidative and inflammatory process. (2025/04/01) ♡
• 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. A phenomap of TTR amyloidosis to aid diagnostic screening. (2025/04/01) ♡
• Misprocessing of α-Galactosidase A, Endoplasmic Reticulum Stress, and the Unfolded Protein Response. (2025/04/01) ♡
• Sodium-glucose cotransporter 2 inhibitors reduce albuminuria in patients with Fabry disease: a real-world case series. (2025/04/01) ♡
• Phenotypic Evolution in Fabry Disease: Our Experience in Indian Cohort. (2025/04/01) ♡
• 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. Unraveling the Hidden Burden of Gastrointestinal and Nutritional Challenges in Children with Fabry Disease: A Systematic Review with Meta-Analysis. (2025/03/29) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Unveiling complexity: A detailed case report on type 1 diabetes and its rare camptodactyly complication. (2025/03/01) ♡
• Epidemiology and early predictors of Fabry nephropathy: evaluation of long-term outcomes from a national Fabry centre. (2025/03/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Zebra Bodies in the Kidney: Is it a Pathognomonic Finding of Fabry Disease? (2025/03/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Impact of enzyme replacement therapy and migalastat on disease progression in females with fabry disease. (2025/02/20) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Female Fabry Patient With Left Ventricular Outflow Tract Obstruction. (2025/02/19) ♡
• 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. Mitochondrial Dysfunction and Its Potential Molecular Interplay in Hypermobile Ehlers-Danlos Syndrome: A Scoping Review Bridging Cellular Energetics and Genetic Pathways. (2025/02/19) ♡
• A Supramolecular Gel-Based Protocol for the Detection of α-Glycosidases for Screening Potential Drugs. (2025/02/17) ♡
• 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. The use of nanocarriers in treating Batten disease: A systematic review. (2025/02/10) ♡
• c.640-814T>C mutation in deep intronic region of alpha-galactosidase A gene is associated with Fabry disease via dominant-negative effect. (2025/02/05) ♡
• Dual role of vascular endothelial growth factor-C in post-stroke recovery. (2025/02/03) ♡
• 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. Chaperone therapy: Stabilization and enhancement of endogenous and exogenous lysosomal enzymes. (2025/02/01) ♡
• 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. Influence of Treatment Effect Modifiers in Fabry Disease: A Systematic Literature Review. (2025/02/01) ♡
• 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. Effects of Current Therapies on Disease Progression in Fabry Disease: A Narrative Review for Better Patient Management in Clinical Practice. (2025/02/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Generation of a human induced pluripotent stem cell lines (UKJi003-A) from a patient with Fabry disease and healthy donor (UKJi004-A). (2025/02/01) ♡
• Digital microfluidic platform for dried blood spot newborn screening of lysosomal storage diseases in Campania region (Italy): Findings from the first year pilot project. (2025/02/01) ♡
• 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. A systematic literature review to evaluate the cardiac and cerebrovascular outcomes of patients with Fabry disease treated with agalsidase Beta. (2025/01/21) ♡
• 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. Advances in genetic diagnosis and therapy of hereditary heart disease: a bibliometric review from 2004 to 2024. (2025/01/08) ♡
• 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 phase III, open-label clinical trial evaluating pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease previously treated with other enzyme replacement therapies. (2025/01/01) ♡
• 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. Artificial intelligence electrocardiography for the evaluation of cardiac involvement in Fabry disease. (2025/01/01) ♡
• 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. Biomarker testing for lysosomal diseases: A technical standard of the American College of Medical Genetics and Genomics (ACMG). (2025/01/01) ♡
• 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. Genetically modified organoids for tissue engineering and regenerative medicine. (2025/01/01) ♡
• Endocannabinoid receptor 2 is a potential biomarker and therapeutic target for the lysosomal storage disorders. (2025/01/01) ♡
• Relevance of Neutralizing Antibodies for the Pharmacokinetics of Pegunigalsidase Alfa in Patients with Fabry Disease. (2025/01/01) ♡
• Use of a mouse-human chimeric anti-α-galactosidase A monoclonal antibody as a reference for measuring serum antidrug antibody titers in patients with Fabry disease. (2025/01/01) ♡
• Renal and multisystem effectiveness of 3.9 years of migalastat in a global real-world cohort: Results from the followME Fabry Pathfinders registry. (2025/01/01) ♡
• Diagnosis and treatment of Fabry disease. Expert Opinion of the Polish Cardiac Society and the Polish Forum for Fabry Disease. (2025/01/01) ♡
• 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. Fabry Disease Nephropathy: Compendium of "in vitro" and "in vivo" Renal Effects of Globotriaosylsphingosine. (2025/01/01) ♡
• Role of Genetic Testing in Diagnosis and Prognosis Prediction in Hypertrophic Cardiomyopathy in Korea. (2024/12/30) ♡

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