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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 (1331)

• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Prevalence of Fabry Disease in a Defined Population at Risk - Patients Formerly Diagnosed With Multiple Sclerosis (2021-04-09) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. The Efficacy and Safety of Switch Between Agalsidase Beta to Agalsidase Alfa for Enzyme Replacement in Patients With Anderson-Fabry Disease (2021-04-09) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Stroke in Young Fabry Patients (sifap1): Frequency of Fabry Disease in Young Stroke Patients (2021-04-09) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Getting Global Rare Disease Insights Through Technology Study (2021-04-08) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Evaluation of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-Naïve Adult Male Patients With Fabry Disease (2021-03-23) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Effect of Migalastat on Cardiac Involvement in Fabry Disease (2021-03-18) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Home Therapy With Replagal in Fabry Disease (2021-03-17) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Kidney Information Network for Disease Research and Education (2021-02-24) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Molecular and Cellular Mechanisms of Lysosomal Storage Diseases (2021-02-23) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Inflammatory Pathways and Cardiac Growth Factors Associated With Fabry Disease Cardiomyopathy (2021-01-27) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. German Observational Multicenter Study of Patients With Fabry Disease Under Chaperone Therapy With Migalastat-HCl. (2021-01-05) ♡
• The patient journey of patients with Fabry disease, Gaucher disease and Mucopolysaccharidosis type II: A German-wide telephone survey. (2020/12/31) ♡
• Variable clinical features of patients with Fabry disease and outcome of enzyme replacement therapy. (2020/12/31) ♡
• 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 Therapy: State-of-the-Art and Current Challenges. (2020/12/28) ♡
• Fabry disease and COVID-19: international expert recommendations for management based on real-world experience. (2020/12/24) ♡
• Outcomes of Kidney Transplantation in Fabry Disease: A Meta-Analysis. (2020/12/23) ♡
• The Retinal Vessel Density as a New Vascular Biomarker in Multisystem Involvement in Fabry Disease: An Optical Coherence Tomography Angiography Study. (2020/12/18) ♡
• A polylysine-polyhistidine fusion peptide for lysosome-targeted protein delivery. (2020/12/17) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Case Report: A Spinal Ischemic Lesion in a 24-Year-Old Patient With Fabry Disease. (2020/12/14) ♡
• 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. Stroke and Fabry Disease: A Review of Literature. (2020/12/14) ♡
• Mono-symptomatic Fabry disease in a population with mild-to-moderate left ventricular hypertrophy. (2020/12/10) ♡
• 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. Application of proteomics and metabolomics to study inherited kidney disorders: from big data to precision medicine. (2020/12/07) ♡
• White matter integrity correlates with cognition and disease severity in Fabry disease. (2020/12/05) ♡
• Inflammatory biomarker detection in milk using label-free porous SiO(2) interferometer. (2020/12/01) ♡
• 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. The role of Immunity in Fabry Disease and Hypertension: A Review of a Novel Common Pathway. (2020/12/01) ♡
• Combined analysis of plasma or serum glucosylsphingosine and globotriaosylsphingosine by UPLC-MS/MS. (2020/12/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Fabry Disease in Young Ischemic Stroke Patients in Northern Israel. (2020/12/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Effects of Baseline Left Ventricular Hypertrophy and Decreased Renal Function on Cardiovascular and Renal Outcomes in Patients with Fabry Disease Treated with Agalsidase Alfa: A Fabry Outcome Survey Study. (2020/12/01) ♡
• 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. Fabry disease in cardiology: Diagnosis and therapeutic approaches. (2020/12/01) ♡
• Assessment of Peripheral Nervous System Alterations in Patients with the Fabry Related GLA-Variant p.A143T. (2020/11/30) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. A ppm Ethanol Sensor Based on Fabry-Perot Interferometric Surface Stress Transducer at Room Temperature. (2020/11/30) ♡
• The value of left ventricular longitudinal strain in the diagnosis and differential diagnosis of myocardial amyloidosis. (2020/11/24) ♡
• Screening for Fabry Disease in Young Strokes in the Australian Stroke Clinical Registry (AuSCR). (2020/11/24) ♡
• 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-like bodies in COVID-19: is phospholipidosis evidence of hydroxychloroquine induced acute kidney injury? (2020/11/20) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Multispectral imaging detects gastritis consistently in mouse model and in humans. (2020/11/18) ♡
• Lyso-Gb3 Increases αvβ3 Integrin Gene Expression in Cultured Human Podocytes in Fabry Nephropathy. (2020/11/13) ♡
• Neural-Network-Based Diagnosis Using 3-Dimensional Myocardial Architecture and Deformation: Demonstration for the Differentiation of Hypertrophic Cardiomyopathy. (2020/11/11) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Sudden onset of nephrotic syndrome in an asymptomatic Fabry patient: a case report. (2020/11/01) ♡
• Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screening. (2020/11/01) ♡
• 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. Therapeutic advances in Fabry disease: The future awaits. (2020/11/01) ♡
• Treatable lysosomal storage diseases in the advent of disease-specific therapy. (2020/11/01) ♡
• Fabry disease patients have an increased risk of stroke in the COVID-19 ERA. A hypothesis. (2020/11/01) ♡
• Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: A Fabry Registry analysis stratified by phenotype. (2020/10/30) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Different Phenotypes of Anderson-Fabry Disease Identified with Cardiac Magnetic Resonance Imaging in a Family with the Same Late-Onset Mutation. (2020/10/29) ♡
• 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. Biomarkers in Anderson-Fabry Disease. (2020/10/29) ♡
• Randomized researchiParticipants were divided into groups by lottery and compared with each other. This reduces the chance that a difference is due to something other than the treatment. The effect of the glucosylceramide synthase inhibitor lucerastat on cardiac repolarization: results from a thorough QT study in healthy subjects. (2020/10/27) ♡
• 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. From Skin to Kidneys: Cutaneous Clues of Renal Disease in Children. (2020/10/26) ♡
• Systemic Treatment of Fabry Disease Using a Novel AAV9 Vector Expressing α-Galactosidase A. (2020/10/22) ♡
• Impact of Myocardial Contouring Method on the Cardiac MRI Assessment of Left Ventricular Mass in Hypertrophied Hearts. (2020/10/22) ♡
• English version of the self-administered Fabry Pain Questionnaire for adult patients. (2020/10/20) ♡

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