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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. Cardiac manifestations of Fabry disease: are women getting enough attention? (2026/04/01) ♡
- Intravenous administration of EXG110 resulted in substrate correction in Fabry mice and sustained enzyme activity in non-human primates. (2026/04/01) ♡
- 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 multigenerational fabry disease case caused by a de novo GLA mutation: Diagnostic delay, phenotypic variability, and the impact of early detection. (2026/04/01) ♡
- Impact of SGLT2 inhibitors in patients with Fabry disease. (2026/03/09) ♡
- A real-world pharmacovigilance analysis for agalsidase beta: findings from the FDA adverse event reporting database. (2026/03/01) ♡
- Axon guidance deficits in a human sensory-like neuron model of Fabry disease. (2026/03/01) ♡
- Patterns of Left Ventricular Remodeling and Outcomes in Fabry Disease. (2026/03/01) ♡
- Multimodality imaging assessment of cardiac involvement in classic and late-onset Anderson-Fabry disease. (2026/03/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Usefulness of electron microscopy in the diagnosis of heterozygous Fabry disease with left ventricular outflow tract obstruction masquerading as hypertrophic cardiomyopathy. (2026/03/01) ♡
- 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. Diagnosis, treatment, and follow-up of Fabry disease in pediatrics. (2026/03/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Cardiac characteristics of Fabry disease from baseline enrolment data in a nationwide prospective Japanese registry. (2026/02/15) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases. (2026/02/14) ♡
- 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. The cribriform plate: A dynamic central nervous system-immune hub. (2026/02/02) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. The prokineticin system and glia cells as pharmacological targets to control neuroinflammation and to relieve pain in a murine model of Fabry-Anderson disease. (2026/02/01) ♡
- Episodic pain in Fabry disease is mediated by a heat shock protein-transient receptor potential cation channel A1 axis. (2026/02/01) ♡
- Differentiating Anderson-Fabry Disease from Other Causes of Left Ventricular Hypertrophy: Novel Insights from Left Atrial Strain Imaging. (2026/02/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Impact of cardiac magnetic resonance on the clinical management of patients with Fabry disease: Data from the CMR Italian research and CLinical nEtwork for Fabry disease (CIRCLE-FD). (2026/02/01) ♡
- Detection of mulberry bodies using molecular imaging flow cytometry. (2026/02/01) ♡
- Lyso-Gb3 in a Fabry pediatric cohort diagnosed by newborn screening. (2026/01/30) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Long-Term Cardiac Stability Despite Late Enzyme Replacement Therapy in Fabry Disease With Severe Renal Involvement. (2026/01/21) ♡
- A rapid method to reduce drug interferences for antibody measurements in pegunigalsidase alfa-treated patients with Fabry disease. (2026/01/13) ♡
- 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. Lucerastat, an oral therapy for Fabry disease: results from a pivotal randomized phase 3 study and its open-label extension. (2026/01/10) ♡
- 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: Novel GLA mutation in a Chinese female with renal-predominant Fabry disease and cardiac hypertrophy. (2026/01/08) ♡
- Elevated circulating cell-free mitochondrial DNA in fabry disease: insights into inflammatory activation. (2026/01/07) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Pathological capillary analysis of ischemia with non-obstructive coronary arteries in a Fabry disease patient receiving enzyme replacement therapy. (2026/01/01) ♡
- Fabry disease: The crucial role of the interhospital Heart Team in the diagnostic process of this rare disease. (2026/01/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Long-term effectiveness and safety outcomes in adults with Fabry disease treated with agalsidase alfa: 20 years of data from the Fabry Outcome Survey. (2026/01/01) ♡
- Collective methodological emission assay of Thioflavin T for qualitative α-synuclein fibril structures discrimination. (2026/01/01) ♡
- Underrecognized need for early detection of inborn errors of metabolism in China: A population-based study of 14.31 million residents (2012-2023). (2026/01/01) ♡
- New multiplex LC-MS/MS method for lipid biomarker analysis of inherited neurodegenerative metabolic diseases. (2026/01/01) ♡
- Sex-Based Disparities in Fabry Disease Cause Challenges in Newborn Screening. (2026/01/01) ♡
- 9th Update on Fabry Disease. (2026/01/01) ♡
- 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. Fabry Disease: Current Perspectives on Diagnosis and Management Strategies. (2026/01/01) ♡
- A non-coding signature in SHROOM3 is associated with kidney disease progression in Fabry disease. (2026/01/01) ♡
- 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. A Study to Learn About the Safety and Effects of the Study Drug PRX-102 in Children and Adolescents With Fabry Disease (2026-08-10) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Cardiovascular Multimodality Imaging Study (2026-08-10) ♡
- 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. A Fabry Disease Gene Therapy Study (2026-08-06) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program (2026-07-28) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study of Patients With Fabry Disease (US Specific) (2026-07-10) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Observational Study on Long-term Use of Pegunigalsidase Alfa in Fabry Patients in a Real-world Setting (2026-07-08) ♡
- 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. A Study to Evaluate Migalastat in Fabry Subjects With Amenable GLA Variant and Renal Disease (2026-07-06) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Functional Capacity in Anderson-Fabry Disease Patients (2026-07-02) ♡
- 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. A Study to Evaluate the Long-term Safety and Tolerability of Lucerastat in Adult Subjects With Fabry Disease (2026-07-02) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Periodontal Disease in Rare Renal Disorders (PERIO-RA-RE) (2026-06-26) ♡
- 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. A Study of Migalastat in Pediatric Subjects (2 to <12 Yrs) With Fabry Disease and Amenable GLA Variants (2026-06-25) ♡
- 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. A Study to Evaluate the Effect of Venglustat Tablets on Left Ventricular Mass Index in Male and Female Adult Participants With Fabry Disease (2026-06-24) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Fabry Disease Registry & Pregnancy Sub-registry (2026-06-23) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study of the Spermatic Characteristics of Patients With Fabry Disease (2026-06-18) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. T1 Mapping in Fabry Disease (2026-06-02) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Prevalence of Fabry's Disease in a Population of Patients With Chronic Pains (2026-05-29) ♡
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