What researchers published on Fabry disease
285 papers, newest first.
Showing 80 of 285
Not labelled yetLeadless Pacemaker Implantation in Fabry Disease With Permanent Atrial Fibrillation and Bradycardia: Diagnostic and Implantation Guidance by Preprocedural Cardiac Magnetic Resonance Imaging.Clinical case reports
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
Not labelled yet[Fabry disease and hypertrophic obstructive cardiomyopathy: from phenotypic mimicry to precision diagnosis and treatment].Zhonghua xin xue guan bing za zhi
Not labelled yetPrevalence of migalastat-amenable variants in patients with Fabry disease from Brazil, Argentina, and Colombia: an observational study.Frontiers in genetics
Not labelled yetMyosin inhibitor therapy in Fabry cardiomyopathy with dynamic left ventricular outflow obstruction.American heart journal plus : cardiology research and practice
Not labelled yetClinical and Laboratory Characteristics of Fabry Disease in Children and Adults: A Focus on Early Kidney Findings.Journal of clinical medicine
Not labelled yetMolecular and Structural Characterization of Five Novel GLA Gene Variants in Fabry Disease.International journal of molecular sciences
Not labelled yetNGAL as a Biomarker of Tubular Injury and Glomerular Dysfunction in Fabry Nephropathy.Cells
ReviewNovel GLA Variants: 10 Experts' Tips for the Clinical Assessment of Fabry Disease.Journal of clinical medicine
Not labelled yetSafety, Efficacy, and Pharmacokinetics of Agalsidase Alfa in Treatment-Naive Chinese Patients with Fabry Disease: 52-Week Phase 3, Open-Label, Single-Arm Study.Advances in therapy
Case reportCase Report: Fabry cardiomyopathy associated with a novel truncating GLA variant, c.837_838delinsAT, p.(Gln280Ter).Frontiers in medicine
Observational studyLongitudinal assessment of the retinal phenotype in patients with Fabry disease undergoing continuous enzyme replacement and/or chaperone therapy.Orphanet journal of rare diseases
Case reportPediatric Fabry disease revealed by early neuropathic symptoms: a case report.Oxford medical case reports
Not labelled yetMulticentric screening for Fabry disease in patients with kidney replacement therapy in the Italian Region of Veneto.Minerva urology and nephrology
Not labelled yetGenome sequencing reveals the prevalence of Fabry disease-causing variants in Japan: Evidence from the Tohoku Medical Megabank.Genetics in medicine open
Case reportCase Report: Concurrent Fabry disease, IgA nephropathy and undifferentiated connective tissue disease in a female with normal enzyme activity.Frontiers in immunology
Not labelled yetGLA variant screening in patients with suspected demyelinating disease: Diagnostic yield and implications for the differential diagnosis of multiple sclerosis.Multiple sclerosis and related disorders
Case reportCoronary stenosis in Fabry disease with optical coherence tomography imaging presentation: a case report.European heart journal. Case reports
ReviewFabry disease beyond the classical model: clinical presentation and diagnostic challenges in women.Medicina clinica
Not labelled yetGadopiclenol for Cardiac MRI: Comparison of Myocardial T1 Relaxation Times and Subjective Image Quality at Different Doses in Patients With Anderson-Fabry Disease.Investigative radiology
Not labelled yetNoninvasive Characterization of Myocardial Diseases With Hypertrophic Phenotypes Using Integrated ECG/Echocardiographic Indices.Journal of the American Heart Association
Not labelled yetAI-assisted longitudinal cardiac phenotyping identifies domain-specific remodeling patterns in Fabry cardiomyopathy.Frontiers in artificial intelligence
Not labelled yetComment on "Population Pharmacokinetic Modeling for the Iminosugar Lucerastat Supports Dose Adaptation in Patients with Fabry Disease and Moderate to Severe Renal Function Impairment".Journal of clinical pharmacology
Not labelled yetProgressive conduction system disease preceding hypertrophy in IVS4+919G>A Fabry variant: a population-based electrocardiographic study.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology
Not labelled yetCardiomegaly of Unknown Origin: Why Morphology Still Matters in the Genetic Era - A Case of Cardiac Fabry Disease.Medeniyet medical journal
Not labelled yetThe changing landscape of Fabry disease: Impact of the inclusion of the GLA-gene in broader NGS or WES based panels on the phenotypic spectrum.PloS one
ReviewFabry Disease: Integrating Molecular Pathophysiology, Precision Diagnosis, and Artificial Intelligence Toward Precision Medicine.Cells
Not labelled yet[Analysis of clinical spectrum and genotype characteristics of 9 cases of Fabry disease].Zhonghua nei ke za zhi
Case report[A family report of Fabry disease with bilateral foot pain as the initial symptom].Zhonghua nei ke za zhi
Not labelled yetImpaired motor unit profile in Fabry disease: A quantitative electrophysiological study.Clinical neurophysiology practice
Not labelled yetEpigenetic aging and autosomal methylation remodeling in Anderson-Fabry disease.Experimental gerontology
ReviewFabry Disease: Cardiac and Neurologic Involvement.Heart failure clinics
Observational studySGLT2 Inhibitors and Cardiovascular Outcomes in Patients With Fabry Disease: Observations From a Federated Research Network.Diabetes, obesity & metabolism
Not labelled yetDysregulated phosphatidylglycerol metabolism in dorsal root ganglia contributes to pain hypersensitivity in a mouse model of Fabry disease.Neurobiology of disease
Not labelled yetNovel GLA variant (c.752A>C; p.Glu251Ala) identified in a patient with Fabry cardiomyopathy and familial segregation.Frontiers in molecular biosciences
Not labelled yetGenetic Modifiers of Cardiac Remodeling Severity in IVS4+919G>A-Associated Fabry Cardiomyopathy.International journal of molecular sciences
Not labelled yetTwo Faces of the Right Ventricle in Fabry Cardiomyopathy: Septal-Coupled and Atrial-Coupled Strain Patterns and Their Differential Associations with Enzyme Replacement Therapy.Biomolecules
Not labelled yetGeneration and characterization of induced pluripotent stem cells from a patient with classic Fabry disease.Intractable & rare diseases research
Not labelled yetGeneration of two induced pluripotent stem cell lines from Fabry disease patients carrying GLA mutations.Stem cell research
Not labelled yet[Care pathway for the diagnosis and management of patients with hypertrophic phenotype in the Marche Region: the experience of the Marche Cardiomyopathies Network].Giornale italiano di cardiologia (2006)
Case reportFabry cardiomyopathy presenting as hypertrophic phenotype with left ventricular outflow tract obstruction: a case series.Frontiers in cardiovascular medicine
ReviewFabry Disease: An Updated Perspective and Review of Treatment and Therapies.Advances in therapy
Not labelled yetGeneration of diseased and isogenic control human induced pluripotent stem cell lines MHHi043-A & MHHi043-B from a female Fabry disease patient carrying c.644A > G missense mutation.Stem cell research
Case reportSertraline-induced renal phospholipidosis.BMJ case reports
ReviewCentral nervous system biomarkers in Fabry disease: Mechanisms, clinical evidence, and translational integration.Molecular genetics and metabolism
Not labelled yetOccurrence of Infusion Associated Reactions and Antidrug Antibodies in Enzyme Replacement Therapy for Fabry Disease and the Effect of Preventive Measures.Journal of inherited metabolic disease
Not labelled yetClinical and Biochemical Improvement After Switching From Agalsidase Alfa to Beta in a Boy With Classic Fabry Disease: A Case Report.Clinical case reports
Case reportFabry Disease Diagnosed With Lung Nodule: A Unique Presentation in a Young Female Patient.Cureus
Case reportLong-Term Cardiac Remodeling During Migalastat Therapy in a Heterozygote Woman With Fabry Disease (N224S): A 9 Year Case Report.The American journal of case reports
Not labelled yetPrevalence of Fabry disease GLA variants among patients with parapelvic cysts: a Multicenter Italian Cohort Study.Journal of nephrology
ReviewFabry nephropathy as the clinical anchor for kidney-centered metabolic surveillance: linking genetic heterogeneity to early risk identification.Frontiers in genetics
ReviewClinical manifestations, diagnosis, and management of renal involvement in Fabry disease.Renal failure
Not labelled yetNucleoside-Modified mRNA Encoding Alpha-Galactosidase A Ameliorates Fabry Disease Phenotypes in Human IPSC-Derived Cardiomyocytes.Advanced science (Weinheim, Baden-Wurttemberg, Germany)
Not labelled yetImmuno-Inflammatory Profiling and Complement Activation in Fabry Disease: A Cross-Sectional Study.International journal of molecular sciences
Not labelled yetVascular endothelial dysfunction and echocardiographic changes in male and female patients with Fabry disease: a single-center observational study.Clinical research in cardiology : official journal of the German Cardiac Society
Not labelled yetCardiac Remodeling Trajectory and Renal Stage-Specific Risk Stratification in East Asian Fabry Disease Patients.JACC. Asia
ReviewPain in Fabry disease: do experimental models reveal novel therapeutic targets?Biochemical pharmacology
Not labelled yetUnraveling A4GALT Mechanism and Its Modulation With Adamantyl-Galactosylceramide Analogues: Advancing Fabry Disease Therapeutic Strategies.Angewandte Chemie (International ed. in English)
Not labelled yetParadoxical Apparent Native T1 Elevation in Triglyceride Deposit Cardiomyovasculopathy: A Pitfall in Contrast With Fabry Disease.JACC. Cardiovascular imaging
Not labelled yetResponse to "Comment on 'Unveiling the characteristics of lobar-predominant cerebral microbleeds in Fabry disease"'.Journal of the Formosan Medical Association = Taiwan yi zhi
Not labelled yetMyocardial inflammation and scar expansion in patients with Anderson-Fabry disease.Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance