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Fabry disease
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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. Pathogenic mechanisms in Fabry disease. (2026/06/23) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. ALIGNED Network for rare cerebrovascular diseases: methodology and preliminary results. (2026/06/22) ♡
- 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. Inflammation in Cardiomyopathies: Cellular Mechanisms Across Cardiac Phenotype. (2026/06/22) ♡
- 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. What Are Heart Failure With Preserved Ejection Fraction Mimics and What Are They Mimicking? Insights Into Our Conceptualization of Heart Failure With Preserved Ejection Fraction as a Disease. (2026/06/18) ♡
- 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: Fabry disease mimicking coronary artery disease and hypertrophic cardiomyopathy-a 15-year diagnostic delay. (2026/06/18) ♡
- 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 bilateral development assistance for surgery in low- and middle-income countries: trends, challenges and opportunities. (2026/06/17) ♡
- Multimodal phenotypic clustering predicts cardiac outcomes in Fabry disease. (2026/06/17) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Clinical outcomes of agalsidase Beta (fabrazyme) in Chinese fabry disease patients with proteinuria: a case series. (2026/06/17) ♡
- Identification of Potential Proteins Interacting with α-Galactosidase A to Analyze the Pathogenesis of Fabry Disease. (2026/06/16) ♡
- Proxy patients' perceptions of genetic counselor empathy responses. (2026/06/12) ♡
- Evaluation of corneal morphology, pupillometry, and ocular surface parameters in Fabry disease patients: correlation with plasma Lyso-Gb3 levels. (2026/06/11) ♡
- Newborn screening for Fabry disease in Japan: an additional 3-year report. (2026/06/11) ♡
- Differential diagnosis of hypertrophic cardiomyopathy, fabry cardiomyopathy and cardiac amyloidosis: insights from right ventricular strain imaging echocardiography. (2026/06/10) ♡
- Human α-galactosidase A is stimulated by folic acid supplementation - possible implications in Fabry disease management. (2026/06/10) ♡
- The impacts of caring for children with inherited metabolic diseases for families: a cross-sectional study. (2026/06/10) ♡
- Supranormal Ejection Fraction as a Clinical Red Flag: Differentiating Hemodynamic Stress From Intrinsic Cardiomyopathy in Heart Failure. (2026/06/10) ♡
- 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 it COPD? It is Fabry disease: a case in which bronchodilators were briefly used but not continued, prioritizing enzyme replacement therapy. (2026/06/09) ♡
- Development of Dried Blood Spot Proficiency Testing Materials for Newborn Screening of Lysosomal Diseases Using Recombinant Enzymes. (2026/06/09) ♡
- Executive summary of evidence-based clinical practice guideline for Fabry nephropathy. (2026/06/05) ♡
- The impact of cardiovascular risk factors in non-classical Fabry disease. (2026/06/04) ♡
- White Matter Microstructural Alterations Are Linked to Cognitive Impairment in Patients with Fabry Disease: an Automated Fiber Quantification Study. (2026/06/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. When 'Liver Enzymes' Are Not Hepatic: Late-Onset Pompe Disease. (2026/06/01) ♡
- 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. Globotriaosylceramide (Gb3) implications in cardiovascular disease for its mechanistic insights, food chemistry aspects and clinical significance - A review. (2026/06/01) ♡
- Real world outcomes of Fabry disease in Italian excellence centers: the ground study. (2026/05/30) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. From diagnosis to disease-specific treatment: first experience with enzyme replacement therapy for Fabry disease in North Macedonia-a case series. (2026/05/29) ♡
- Increased Risk of Injury in Patients with Fabry Disease: A Nationwide Population-Based Cohort Study in Taiwan. (2026/05/29) ♡
- MiR-19a-3p: a potential biomarker for predicting cardiac risk in anderson-fabry disease. (2026/05/28) ♡
- 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. Capsid Engineering of Adeno-Associated Viruses for Targeted Gene Therapy in Kidney Diseases. (2026/05/28) ♡
- Fabry Disease Presenting as End-Stage Hypertrophic Cardiomyopathy: Diagnostic Pitfalls and Lessons Learned: JACC Case Rep. 2025;106032. (2026/05/27) ♡
- 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. A proteomic atlas phenotyping Fabry disease identifies a precise cardiovascular risk signature that integrates mitochondrial and lysosomal pathways. (2026/05/22) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Phenotypic Variability of Kidney Involvement in Fabry Disease-Lessons from a Family Study. (2026/05/22) ♡
- DUAL GIP/GLP-1Ra reduces residual proteinuria in non-diabetic fabry disease. (2026/05/20) ♡
- Novel GLA variant in Fabry cardiomyopathy: evidence of pathogenicity and amenability to migalastat. (2026/05/20) ♡
- Sudden cardiac death and major arrhythmic events in patients with Fabry disease: Risk stratification in the French Heart Fabry cohort multicenter study. (2026/05/15) ♡
- 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. Danon Disease: Understanding the Role of LAMP2 Variants in Cardiomyopathy and Multisystemic Involvement. (2026/05/15) ♡
- Impact of migalastat therapy on corneal deposits in a female with Fabry disease: A case report. (2026/05/14) ♡
- Enhancing specialist competence in clinical pathways for left ventricular hypertrophy: design and evaluation of a competency-based curriculum. (2026/05/12) ♡
- 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 Rare Case of Fabry Disease Combined With Idiopathic Multicentric Castleman Disease and Membranous Nephropathy. (2026/05/12) ♡
- Effectiveness and tolerability of migalastat in adult Fabry disease: A single regional centre experience. (2026/05/11) ♡
- Tolerability of SGLT2 inhibitors in patients with Fabry disease: An observational study. (2026/05/09) ♡
- Correction: Correlation of retinal vascular characteristics with laboratory and ocular findings in Fabry disease: exploring ocular diagnostic biomarkers. (2026/05/08) ♡
- 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. Electrocardiographic abnormalities attributable to infiltrative cardiomyopathies: review and prevalence in patients with congestive heart failure. (2026/05/01) ♡
- 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. Impact of enzyme replacement therapy on hearing sensitivity in Fabry disease: A systematic review. (2026/05/01) ♡
- Partial heat shock response and transient receptor potential ankyrin 1 sensitization redefine mechanisms of Fabry disease pain. (2026/05/01) ♡
- 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. Application of FeNO in the diagnostic and therapeutic algorithm of pediatric asthma: From chronic cough and wheeze to personalized management. (2026/05/01) ♡
- 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. Artificial Intelligence Application and Future Directions in Infiltrative and Inflammatory Cardiomyopathies: A State-of-the-Art Review. (2026/05/01) ♡
- Nanomedicines for DNA and interference RNA co-delivery: Combined gene therapy for Fabry disease. (2026/05/01) ♡
- 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. Modeling Fabry nephropathy: insights from experimental systems towards precision nephrology. (2026/05/01) ♡
- Prevalence and sociodemographic, clinical, and genetic characteristics of Fabry disease in north-central Chile, 2013-2023. (2026/04/28) ♡
- A new approach methodology for studying intrinsic ventricular arrhythmias in Fabry disease. (2026/04/23) ♡
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