What researchers published on Fabry disease
288 papers, newest first.
Showing 20 of 288
AAV-mediated genome targeting of the GLA cDNA in newborn and juvenile Gla KO mice achieves long-term correction of Fabry disease.Molecular therapy. Advances
Improving molecular diagnosis of fabry disease: functional validation of novel splicing variants in GLA.Orphanet journal of rare diseases
ReviewImplementing evolving Fabry disease management recommendations in resource-constrained settings: lessons from South Africa.Orphanet journal of rare diseases
Leadless Pacemaker Implantation in Fabry Disease With Permanent Atrial Fibrillation and Bradycardia: Diagnostic and Implantation Guidance by Preprocedural Cardiac Magnetic Resonance Imaging.Clinical case reports
Raised Amylase as a Potential Marker of Vascular Dysfunction and Inflammation in Fabry Disease.JIMD reports
Early Change in Left Ventricular Global Longitudinal Strain and Long-Term Cardiovascular Outcomes in Fabry Disease: A Prognostic Tool for Enzyme Replacement Therapy.JACC. Cardiovascular imaging
Migalastat Versus Enzyme Replacement Therapy in Treatment-Naïve Fabry Disease: Real-World Evidence From the followME Fabry Pathfinders Registry.Journal of inherited metabolic disease
Relative versus absolute globotriaosylsphingosine changes and kidney outcomes in Fabry disease.Molecular genetics and metabolism reports
Case reportVentricular tachycardia ablation in late-onset phenotype Fabry disease: a case report.European heart journal. Case reports
Impact of Anti-drug Antibodies in Patients with Fabry Disease under Enzyme Replacement Therapy: Long-Term Outcomes.BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy
Observational studyDisease severity and lyso-Gb3 are associated with early echocardiographic markers of cardiac involvement in Fabry disease: a single-center observational study.Orphanet journal of rare diseases
Peripheral and cardiac determinants of exercise intolerance in classic Anderson-Fabry disease: insights from cardiopulmonary exercise testing and advanced echocardiography.Orphanet journal of rare diseases
Biochemical Endocrine and Skeletal Findings in Adults with Fabry Disease: A Descriptive Single-Center Study.Biomolecules
Early mitophagy defects and impaired mitochondrial energy metabolism drive target organ damage progression: Lessons from the Fabry heart.Cell reports
Case reportFabry's Disease, Valvular Disease and Infective Endocarditis: A Rare Intersection.JACC. Case reports
"On-Site Family Screening" in Fabry Disease: An Innovative Model for Identifying At-Risk Relatives.Journal of clinical medicine
Heterogeneous biochemical responses to migalastat in real-world cases of Fabry disease.European journal of medical genetics
Impact of the protein corona in RGD-functionalized nanoliposomes delivering enzymatic replacement therapy for Fabry disease.International journal of pharmaceutics
Case reportSilent Cardiac Progression in a Woman With Fabry Disease Despite Normal Baseline CMR.JACC. Case reports
ReviewThe role of dermatological manifestations in the early diagnosis of Fabry disease: a scoping review.Frontiers in medicine