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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)

• 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. Deciphering the diagnostic dilemma: A comprehensive review of the Taiwanese cardiac variant in Fabry disease. (2024/07/01) ♡
• 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. Hidden genetics behind glomerular scars: an opportunity to understand the heterogeneity of focal segmental glomerulosclerosis? (2024/06/01) ♡
• Profiles of Globotriaosylsphingosine Analogs and Globotriaosylceramide Isoforms Accumulated in Body Fluids from Various Phenotypic Fabry Patients. (2024/06/01) ♡
• 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. Oxidative stress and its role in Fabry disease. (2024/06/01) ♡
• 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. Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study. (2024/05/21) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln GLA Variant in Anderson-Fabry Disease. (2024/04/12) ♡
• "Every Cloud Has a Silver Lining": How Three Rare Diseases Defend Themselves from COVID-19 and What We Have Learnt from It. (2024/04/08) ♡
• 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. Diet and Physical Activity in Fabry Disease: A Narrative Review. (2024/04/04) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Two successful pregnancies in a woman with Fabry continuing enzyme replacement therapy. (2024/04/01) ♡
• 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. Clinical staging of Anderson-Fabry cardiomyopathy: An operative proposal. (2024/03/01) ♡
• Serum Neopterin, Biopterin, Tryptophan, and Kynurenine Levels in Patients with Fabry Disease. (2024/03/01) ♡
• Diagnostic value of papillary muscle hypertrophy and mitral valve thickness to discriminate cardiac amyloidosis and Fabry disease. (2024/02/15) ♡
• Reconceptualizing podocyte damage in Fabry disease: new findings identify α-synuclein as a putative therapeutic target. (2024/02/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Hemoporfin-mediated photodynamic therapy for angiokeratoma corporis diffusum: A case report. (2024/02/01) ♡
• 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. Applications of Gene Therapy in Cardiomyopathies. (2024/02/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Cesarean section under spinal anesthesia in a first-time gravida with Fabry disease. (2024/02/01) ♡
• 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. Adjuvant Hyperthermic Intraperitoneal Chemotherapy in Patients With Locally Advanced Colon Cancer (COLOPEC): 5-Year Results of a Randomized Multicenter Trial. (2024/01/10) ♡
• [Neuro-otological manifestations in Fabry disease-a retrospective single center study]. (2024/01/01) ♡
• Development of an automated estimation of foot process width using deep learning in kidney biopsies from patients with Fabry, minimal change, and diabetic kidney diseases. (2024/01/01) ♡
• Clinical study of left ventricular structure and function in patients with Anderson-Fabry disease before and after enzyme replacement therapy. (2024/01/01) ♡
• 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. Sex and Gender Differences in AKI. (2024/01/01) ♡
• The role of two dimensional speckle tracking echocardiography in determining cardiac prognosis and monitoring enzyme replacement therapy efficacy in patients with Anderson-Fabry disease. (2024/01/01) ♡
• 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. Associations of Biomarkers of Tubular Injury and Inflammation with Biopsy Features in Type 1 Diabetes. (2024/01/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study of REPLAGAL® in Treatment-naive Chinese Participants With Fabry Disease (2024-10-08) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Studying Lipids as Potential Biomarkers in Patients With Fabry Disease (2024-10-01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Multimodal and Multidisciplinary Approach to Optimize Diagnostic, Prognostic, and Therapeutic Management of Patients with Non-ischemic Cardiomyopathies and Arrhythmogenic-inflammatory Phenotypes: a Multicenter, Observational, Retrospective and Prospective Registry Study. (2024-09-23) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Clinical Investigation on the Blood Oxygenation at the Optic Nerve Head in Fabry Patients (2024-09-19) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Screening of Fabry Disease in Patients With Left Ventricular Hypertrophy Detected in Echocardiography (2024-08-20) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Efficacy and Safety of Lucerastat Oral Monotherapy in Adult Subjects With Fabry Disease (2024-08-09) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Open-Label Expanded Access Treatment With Pegunigalsidase Alfa for Fabry Disease Patients (2024-07-31) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study of the Safety and Biologic Activity of AL01211 in Treatment Naive Males With Classic Fabry Disease (2024-07-30) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Evaluate the Safety and Efficacy of Fabagal® (Agalsidase Beta) in Patients With Fabry Disease (2024-07-29) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Molecular Imaging in Fabry Disease of the Heart (2024-07-22) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Evaluation of the Safety, Tolerability and Efficacy of a Gene Therapy Drug for the Treatment of Pediatric Fabry Disease (2024-07-09) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study of Replagal in Treatment-naïve Adults With Fabry Disease (2024-06-17) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Fabry Disease in High-risk Patients With Left Ventricular Hypertrophy: Prevalence and Implementation of a Clinical Score (2024-06-12) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Evaluation of a Screening Strategy of Fabry Disease in Patient With Renal Biopsy (2024-06-11) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Treatment-related Benefit and Satisfaction in Fabry Patients. Insight in Patients Expectations and Preferences (2024-05-23) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. French Prospective, Observational Cohort Study of Patients With Fabry Disease Treated With Migalastat (2024-05-23) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Autologous Stem Cell Transplantation of Cells Engineered to Express Alpha-Galactosidase A in Patients With Fabry Disease (2024-04-17) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study of the Effects of Fabrazyme Treatment on Lactation and Infants (2024-04-10) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. An Open-label, Phase 1/2 Trial of Gene Therapy 4D-310 in Adults With Fabry Disease (2024-04-08) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Understanding Fabry Disease Therapy Choices Through the Eyes of the Patients (2024-04-03) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Real World Evidence Study of Danish Fabry Patients (2024-03-12) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study Based on Electronic Health RecOrds to Identify Patients at High-risk of Fabry DiseasE (HOPE Fabry) (2024-03-06) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Canadian Fabry Disease Initiative (CFDI) National Registry (2024-02-15) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Open Label, Study Of Efficacy and Safety Of AVR-RD-01 for Treatment-Naive Subjects With Classic Fabry Disease (2024-01-05) ♡
• Increased Soluble Interleukin 6 Receptors in Fabry Disease. (2023/12/29) ♡
• Use of T1 mapping in cardiac MRI for the follow-up of Fabry disease in a pediatric population. (2023/12/29) ♡
• 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. Fabry Disease in Women: Genetic Basis, Available Biomarkers, and Clinical Manifestations. (2023/12/26) ♡

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