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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)

• Changes in Ionic Conductance Signature of Nociceptive Neurons Underlying Fabry Disease Phenotype. (2017/07/14) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Follow-up of Cardiac Fabry Disease Treated by Cardiac Resynchronization Therapy. (2017/07/06) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Fabry disease; early diagnosis improves prognosis but diagnosis is often delayed. (2017/07/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Case report: is low α-Gal enzyme activity sufficient to establish the diagnosis of Fabry disease? (2017/07/01) ♡
• 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. Biomarkers and Imaging Findings of Anderson-Fabry Disease-What We Know Now. (2017/06/11) ♡
• 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. Single Gene Causes of Stroke. (2017/06/01) ♡
• Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease. (2017/05/29) ♡
• 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. Lysosomal storage diseases. (2017/05/25) ♡
• 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. Fabry disease and its cardiac involvement. (2017/05/08) ♡
• Preliminary Screening Results of Fabry Disease in Kidney Transplantation Patients: A Single-Center Study. (2017/04/01) ♡
• A novel mutation and in vivo confocal microscopic findings in Fabry disease. (2017/01/01) ♡
• 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. T1 and T2 Mapping in Cardiology: "Mapping the Obscure Object of Desire". (2017/01/01) ♡
• Serum Bilirubin Levels and Promoter Variations in HMOX1 and UGT1A1 Genes in Patients with Fabry Disease. (2017/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Early Renal Involvement in a Girl with Classic Fabry Disease. (2017/01/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Screening for Fabry Disease in Kidney Disease: a Cross-Sectional Study in Males and Females. (2017/01/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Screening for Fabry Disease in a Pediatric Population at Risk (2017-12-13) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Pharmacokinetics, Pharmacodynamics, and Safety of Moss-aGalactosidase A in Patients With Fabry Disease (2017-12-13) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Diagnostic Value of the Electrocardiogram in Fabry Disease (2017-12-05) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Podocyturia - Predictor of Renal Dysfunction in Fabry Nephropathy (2017-08-28) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Safety and Pharmacokinetics of AT1001 (Migalastat HCl) in Healthy Subjects and Subjects With Impaired Renal Function (2017-08-03) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Natural History in Fabry Patients With IVS4+919G>A Mutation (2017-07-19) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Registry of Fabry Disease - A Multicenter Observational Study (2017-07-02) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Analysis of the Nervous System in Patients With Fabry's Disease (2017-07-02) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study to Collect Data on Fabry Disease Patients With Enhanceable Alpha-Galactosidase A Activity (2017-07-02) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Native T1 Mapping by Cardiovascular Magnetic Resonance Imaging in Rare Diseases (2017-06-26) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Lipidomics and Functional Analyses of Platelets in Fabry Disease (2017-05-08) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study of the Relation Between Lipid Myocardial Overload Evaluated by Cardiac Magnetic Resonance Imaging (MRI), Alteration of Longitudinal Myocardial Deformations by Echocardiography, and Clinical Achievements (Functional, Biological and Electrical) in Fabry Disease, and Its Outcomes. (2017-04-21) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Immune Response in Subjects With Fabry Disease Who Are Switching From Agalsidase Alfa to Agalsidase Beta (2017-04-04) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Investigating Lysosomal Storage Diseases in Minority Groups (2017-04-04) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Establishment of Biomarkers for Fabry Disease (2017-01-13) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Diagnosis of Fabry Disease: Impact of an Educational Brochure Intended for Cardiologist (2016-08-30) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Fabry Disease in Cerebrovascular Disease (2016-08-10) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study of the Prevalence of Fabry Disease in French Dialysis Patients (2016-07-25) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study of Two Fabrazyme (Agalsidase Beta) Dosing Regimens in Treatment-naïve, Male Pediatric Patients Without Severe Symptoms (2016-06-29) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Evaluate the Safety and Exploratory Efficacy of GC1119 (2016-06-24) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Androgenetic Alopecia in Fabry Disease (2016-01-13) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Safety and Efficacy Study of Fabrazyme® Replacement Therapy in Patients With Cardiac Fabry Disease (2015-05-12) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Long Term Safety and Efficacy Study of Fabrazyme Replacement Therapy in Japanese Patients With Fabry Disease. (2015-05-08) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Severe Renal Disease Study in Fabry Patients Treated With Fabrazyme (2015-04-07) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease (2015-04-03) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study of Fabrazyme in Pediatric Patients With Fabry Disease (2015-04-02) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease (2015-04-02) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Dosing Study of Replagal in Patients With Fabry Disease (2015-03-31) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Sleepiness and Sleep-disordered Breathing in Fabry Disease. A Prospective Cohort Study. (2015-03-03) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Enzyme Replacement Therapy in Fabry Disease (2014-11-10) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients. (2014-10-28) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study Evaluating Glycosphingolipid Clearance in Patients Treated With Agalsidase Alfa Who Switch to Agalsidase Beta (2014-07-10) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Phase 1 Study To Evaluate the Safety of Migalastat Hydrochloride Given Intravenously to Healthy Volunteers (2014-06-18) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Screening for Fabry Disease Among Young Stroke Patients in an Israeli Stroke Clinic (2014-06-12) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Pulmonary Involvement in Patients With Fabry Disease (2014-05-28) ♡

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