What researchers published on Fabry disease
284 papers, newest first.
Showing 20 of 284
Not labelled yetRaised Amylase as a Potential Marker of Vascular Dysfunction and Inflammation in Fabry Disease.JIMD reports
Not labelled yetEarly 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
Not labelled yetMigalastat Versus Enzyme Replacement Therapy in Treatment-Naïve Fabry Disease: Real-World Evidence From the followME Fabry Pathfinders Registry.Journal of inherited metabolic disease
Not labelled yetRelative 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
Not labelled yetImpact 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
Not labelled yetPeripheral and cardiac determinants of exercise intolerance in classic Anderson-Fabry disease: insights from cardiopulmonary exercise testing and advanced echocardiography.Orphanet journal of rare diseases
Not labelled yetBiochemical Endocrine and Skeletal Findings in Adults with Fabry Disease: A Descriptive Single-Center Study.Biomolecules
Not labelled yetEarly 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
Not labelled yet"On-Site Family Screening" in Fabry Disease: An Innovative Model for Identifying At-Risk Relatives.Journal of clinical medicine
Not labelled yetHeterogeneous biochemical responses to migalastat in real-world cases of Fabry disease.European journal of medical genetics
Not labelled yetImpact 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
ReviewThyroid involvement in lysosomal storage diseases: current evidence and clinical perspectives.Reviews in endocrine & metabolic disorders
Not labelled yetScreening of fabry disease in patients with left ventricular hypertrophy: a single-center study in Mexico.Orphanet journal of rare diseases
Case report[Fabry disease misdiagnosed as obstructive hypertrophic cardiomyopathy: a case report].Zhonghua xin xue guan bing za zhi
Not labelled yetNF-κB p65 iso5 Δ6/7 and p65 iso5 Δ10 isoforms drive immune-inflammatory remodeling in Fabry disease and GLA variants of uncertain significance.Frontiers in immunology