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Fabry disease
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Publications and studies (1331)
- Left atrial strain correlates with severity of cardiac involvement in Anderson-Fabry disease. (2023/03/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. New insights in efficacy of different enzyme replacement therapy dosages in Fabry disease: Switch studies data following agalsidase beta shortage. (2023/03/01) ♡
- Exome-based gene panel analysis in a cohort of acute juvenile ischemic stroke patients: relevance of NOTCH3 and GLA variants. (2023/03/01) ♡
- High-risk screening for Fabry disease in hemodialysis patients in Chiba Prefecture, Japan. (2023/03/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Right ventricular strain in Fabry disease: Prognostic implications. (2023/03/01) ♡
- 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. Orphan Drugs in Neurology-A Narrative Review. (2023/02/26) ♡
- 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 MRI in Fabry disease. (2023/02/02) ♡
- Additional diagnostic value of electron microscopic examination in endomyocardial biopsy in patients with suspected non-ischemic cardiomyopathy. (2023/02/01) ♡
- 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. Integrating Cardiac MRI Imaging and Multidisciplinary Clinical Care is Associated With Improved Outcomes in Patients With Fabry Disease. (2023/02/01) ♡
- A nationwide cross-sectional analysis of biopsy-proven Fabry nephropathy: the Japan Renal Biopsy Registry. (2023/02/01) ♡
- Pharmacometric model of agalsidase-migalastat interaction in human: a novel mechanistic model of drug-drug interaction between a therapeutic protein and a small molecule. (2023/02/01) ♡
- Screening of Fabry disease in patients with an implanted permanent pacemaker. (2023/02/01) ♡
- Generation of a CRISPR/Cas9-corrected-hiPSC line (DDLABi001-A) from Fabry disease (FD)-derived iPSCs having α-galactosidase (GLA) gene mutation (c.803_806del). (2023/02/01) ♡
- Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry Registry. (2023/02/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Patient reported quality of life and medication adherence in Fabry disease patients treated with migalastat: A prospective, multicenter study. (2023/02/01) ♡
- Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study. (2023/02/01) ♡
- Gastrointestinal Manifestations and Low-FODMAP Protocol in a Cohort of Fabry Disease Adult Patients. (2023/01/28) ♡
- Left Ventricular Apical Aneurysm in Fabry Disease: Implications for Clinical Significance and Risk Stratification. (2023/01/03) ♡
- Management of a Thrombus in a Dolichoectatic Basilar Artery Secondary to Fabry Disease. (2023/01/01) ♡
- Aseptic meningitis in Fabry disease due to a novel GLA variant: an expanded phenotype? (2023/01/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A Fabry Disease Patient Who Developed Hypersensitivity Reaction against Agalsidase Beta following COVID-19 Infection. (2023/01/01) ♡
- 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. Cardiac Involvement in Fabry Disease and the Role of Multimodality Imaging in Diagnosis and Disease Monitoring. (2023/01/01) ♡
- Characterization of cellular phenotypes in neurons derived from induced pluripotent stem cells of male patients with Fabry disease. (2023/01/01) ♡
- A theoretical study on binding and stabilization of galactose and novel galactose analogues to the human α-galactosidase A variant causing Fabry disease. (2023/01/01) ♡
- Asthma burden according to treatment steps in the French population-based cohort CONSTANCES. (2023/01/01) ♡
- Results of the screening program for Fabry disease in patients with cornea verticillata at the University Hospital of Navarre. (2023/01/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Screening Patients With Fabry Disease in Patients With Hypertrophic Cardiomyopathy or Left Ventricular Hypertrophy (2023-12-13) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Long Term Follow-Up Study of Fabry Disease Subjects Treated With FLT190 (2023-12-07) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Global Burden and Treatment Trajectories in Italian Patients With Fabry Disease (2023-11-28) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Biomarkers and Cardiac Imaging Diagnostic Assay for Monitoring Patients With Fabry Disease (2023-11-18) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Safety and Effect of Oral RVX000222 in Subjects With Fabry Disease (2023-11-18) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Detection of Fabry Disease in Chronic Renal Failure Patients in Area Provence - Alpes - Côte d'Azur (2023-11-13) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Pulsatility Index, Vasomotor Reactivity and Leukoencephalopathy in Fabry Patients (2023-11-09) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Assess Urine Biomarkers to Predict Nephropathy in Fabry Disease (2023-10-04) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. National Registry of Rare Kidney Diseases (2023-10-04) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Safety and Efficacy of PRX-102 in Patients With Fabry Disease Currently Treated With REPLAGAL® (Agalsidase Alfa) (2023-09-13) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study of the Safety and Efficacy of PRX-102 Compared to Agalsidase Beta on Renal Function (2023-09-13) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Extension Study of PRX-102 for up to 60 Months (2023-09-13) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Dose-ranging Study of PRX-102 in Adult Fabry Disease Patients (2023-09-13) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Safety, Efficacy, & PK of PRX-102 in Patients With Fabry Disease Administered Intravenously Every 4 Weeks (2023-09-13) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Long-Term Follow-up Study of Subjects With Fabry Disease Who Received Lentiviral Gene Therapy in Study AVRO-RD-01-201 (2023-08-31) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Fabry Exercise Intolerance Study (2023-08-24) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study of Migalastat in Fabry Disease (2023-05-31) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Effect of Cannabinoids on Pain in Fabry Disease Patients (2023-05-12) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. To Assess the Glycosphingolipid Clearance and Clinical Effects of Switching to Agalsidase Beta (Fabrazyme) Versus Continuing on Agalsidase Alfa (Replagal) in Male Patients With Classic Fabry Disease (2023-04-07) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Evaluation of the Gastrointestinal Manifestation of Fabry's Disease (2023-03-27) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Fabry Patient's Experience Of PegunigaLsidasE Alfa Monthly Infusion (2023-03-21) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. FASHION Fabry Disease Hypertrophic Cardiomyopathy and Infammation (2023-03-09) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Biomarker for Patients With Fabry Disease (BioFabry) (2023-02-13) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Multi-Modality Echocardiographic Techniques in Pathological Left Ventricular Hypertrophy Adults (2023-02-10) ♡
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