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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)

• 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. Label-Free Optical Resonator-Based Biosensors. (2020/10/19) ♡
• Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative. (2020/10/10) ♡
• 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. [Isolated left ventricular hypertrophy : is it a Fabry disease?]. (2020/10/07) ♡
• Screening for Fabry Disease in Kidney Transplant Recipients: Experience of a Multidisciplinary Team. (2020/10/07) ♡
• Misfolding of Lysosomal α-Galactosidase a in a Fly Model and Its Alleviation by the Pharmacological Chaperone Migalastat. (2020/10/07) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Left Ventricular Assist Device Support for Fabry Cardiomyopathy: A Case Series. (2020/10/06) ♡
• Anti-drug antibody formation in Japanese Fabry patients following enzyme replacement therapy. (2020/10/03) ♡
• Effects of Orally Delivered Alpha-Galactosidase A on Gastrointestinal Symptoms in Patients With Fabry Disease. (2020/10/01) ♡
• 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. Charcot-Marie-Tooth Disease and Other Hereditary Neuropathies. (2020/10/01) ♡
• The Interaction of Innate and Adaptive Immunity and Stabilization of Mast Cell Activation in Management of Infusion Related Reactions in Patients with Fabry Disease. (2020/09/29) ♡
• Screening for Fabry Disease in patients with unexplained left ventricular hypertrophy. (2020/09/28) ♡
• Unexpectedly High Prevalence of Low Alpha-Galactosidase A Enzyme Activity in Patients with Focal Segmental Glomerulosclerosis. (2020/09/28) ♡
• 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 with early-onset ventricular dilation: A case report. (2020/09/25) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Previously Unidentified Gene Variation Associated with Fabry Disease: The Impact on One Family. (2020/09/19) ♡
• 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. Biomarkers of Fabry Nephropathy: Review and Future Perspective. (2020/09/18) ♡
• 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 Application of Optical Coherence Tomography Angiography in Cerebral Small Vessel Disease, Ischemic Stroke, and Dementia: A Systematic Review. (2020/09/10) ♡
• 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. Long-term efficacy and safety of migalastat treatment in Fabry disease: 30-month results from the open-label extension of the randomized, phase 3 ATTRACT study. (2020/09/01) ♡
• 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. In Vitro and In Vivo Amenability to Migalastat in Fabry Disease. (2020/08/20) ♡
• 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. Analysis of the alpha galactosidase gene: mutation profile and description of two novel mutations with extensive literature review in Turkish population. (2020/08/19) ♡
• Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients. (2020/08/15) ♡
• Fabry keratopathy: manifestations and changes over time. (2020/08/01) ♡
• The value of electrocardiography and echocardiography in distinguishing Fabry disease from sarcomeric hypertrophic cardiomyopathy. (2020/08/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. The heart in Anderson-Fabry disease. (2020/07/01) ♡
• 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. Cardiac involvement in Lysosomal Storage Diseases. (2020/07/01) ♡
• 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. PKU dietary handbook to accompany PKU guidelines. (2020/06/30) ♡
• Left Ventricular Mass and Wall Thickness Measurements Using Echocardiography and Cardiac MRI in Patients with Fabry Disease: Clinical Significance of Discrepant Findings. (2020/06/11) ♡
• Identifying Fabry patients in dialysis population: prevalence of GLA mutations by renal clinic screening, 1995-2019. (2020/06/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Image Gallery: Palmar vascular lesions, a tool for diagnosis and prognosis in Fabry disease. (2020/06/01) ♡
• Agalsidase beta treatment slows estimated glomerular filtration rate loss in classic Fabry disease patients: results from an individual patient data meta-analysis. (2020/05/22) ♡
• 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. Microbial production and biotechnological applications of α-galactosidase. (2020/05/01) ♡
• 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. Pulmonary involvement in selected lysosomal storage diseases and the impact of enzyme replacement therapy: A state-of-the art review. (2020/05/01) ♡
• [Fabry disease]. (2020/05/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Prevalence of Anderson-Fabry disease in a cohort with unexplained late gadolinium enhancement on cardiac MRI. (2020/04/01) ♡
• 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. Could nutritional therapy take us further in our approaches to Fabry disease? (2020/04/01) ♡
• Elevated LysoGb3 Concentration in the Neuronopathic Forms of Mucopolysaccharidoses. (2020/03/13) ♡
• Free urinary glycosylated hydroxylysine as an indicator of altered collagen degradation in the mucopolysaccharidoses. (2020/03/01) ♡
• Neutralising anti-drug antibodies in Fabry disease can inhibit endothelial enzyme uptake and activity. (2020/03/01) ♡
• 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. Restrictive cardiomyopathy in a patient with systemic sclerosis and Fabry disease: a case-based review. (2020/03/01) ♡
• 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. Liver disease and heart failure. (2020/03/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Antimalarial-Induced Cardiomyopathy Resembles Fabry Disease on Cardiac MRI. (2020/03/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. IgM-gammopathy strongly favours immune treatable MMN and MADSAM over ALS. (2020/03/01) ♡
• Impact of the organic cation transporter 2 inhibitor cimetidine on the single-dose pharmacokinetics of the glucosylceramide synthase inhibitor lucerastat in healthy subjects. (2020/03/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. IgA nephropathy suspected to be combined with Fabry disease or Alport syndrome: a case report. (2020/03/01) ♡
• Tp-e interval and Tp-e/QT ratio and their association with left ventricular diastolic dysfunction in Fabry disease without left ventricular hypertrophy. (2020/03/01) ♡
• Obstructive sleep apnea and quality of life in Fabry disease: a prospective parallel cohort study. (2020/03/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Fabry disease genotype, phenotype, and migalastat amenability: Insights from a national cohort. (2020/03/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Are Female Patients More Overlooked in the Diagnosis of Fabry Disease? (2020/02/28) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. In Response to Gürdoğan and Akkuş. (2020/02/28) ♡
• Screening for Fabry Disease in Patients With Juvenile Systemic Lupus Erythematosus. (2020/02/07) ♡
• Differentiation between Fabry disease and hypertrophic cardiomyopathy with cardiac T1 mapping. (2020/02/01) ♡

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