What researchers published on Fabry disease
285 papers, newest first.
Showing 140 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
Not labelled yetThe origin and three-dimensional structure of urinary mulberry bodies in fabry disease.Tissue & cell
Not labelled yetComment on "Unveiling the characteristics of lobar-predominant cerebral microbleeds in Fabry disease".Journal of the Formosan Medical Association = Taiwan yi zhi
Observational studyBridging Biochemical and Clinical Disease Burden in Fabry Disease: A Comparative Analysis of Lyso-Gb3, MSSI, DS3, and FASTEX.International journal of molecular sciences
ReviewAutophagy-Lysosomal Dysfunction as a Converging Mechanism of Cardiomyopathy in Lysosomal Storage Disorders: From Pathobiology to Targeted Therapy.International journal of molecular sciences
Not labelled yetScreening for Fabry Disease Among Dialysis Patients: A Multicenter Cross-Sectional Study in Türkiye with Cascade Screening of Identified Cases.Medicina (Kaunas, Lithuania)
Not labelled yetNeuro-otological findings in fabry disease: prominent oculomotor dysfunction and selective vestibular involvement.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
Not labelled yetGeneration of human induced pluripotent stem cell line MHHi040-A from a female Fabry disease patient carrying c.644A>G missense mutation.Stem cell research
Randomised trialPopulation 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
In plain wordsRead moreRead the paper on PubMedSystematic reviewEvaluating the relationship between antidrug antibodies and efficacy and safety outcomes in patients with Fabry disease receiving enzyme replacement therapy: a systematic literature review.Orphanet journal of rare diseases
In plain wordsRead moreRead the paper on PubMedCase reportGeneration of a human-induced pluripotent stem cell (hiPSC) line as a cellular model of Fabry disease from a patient carrying the p.A143T variant in the GLA gene (AOUMEYi005-A).Stem cell research
ReviewThe Sphingolipid Balance and Endothelial Dysfunction in Lysosomal Storage Diseases: Shared Mechanisms in Gaucher, Niemann-Pick and Fabry Disease.International journal of molecular sciences
ReviewFabry disease cardiomyopathy: Time for a closer heart rhythm monitoring?Heart failure reviews
Case reportA multigenerational fabry disease case caused by a de novo GLA mutation: Diagnostic delay, phenotypic variability, and the impact of early detection.Journal of family medicine and primary care
Not labelled yetGenotype analysis of Fabry disease in a Spanish at-risk population reveals 10 novel GLA variants.Scientific reports
Not labelled yetECG parameters to detect cardiac involvement in Fabry disease.BMC cardiovascular disorders
ReviewExpert Opinion on the Conceptual, Clinical, and Therapeutic Aspects of Fabry Nephropathy: A Nephrologists' Perspective.Kidney & blood pressure research
ReviewCardiological aspects of Fabry disease: from diagnosis to therapeutic efficacy assessment.Orphanet journal of rare diseases
Not labelled yetRegarding: "Development and validation of a self-management efficacy questionnaire for patients with Fabry disease in China".Annals of medicine
ReviewPathogenic mechanisms in Fabry disease.Frontiers in medicine
Not labelled yetAutomated quantification of skin Gb3 load and white matter lesion assessment in Fabry disease.Orphanet journal of rare diseases
Not labelled yetVCAM-1 as a biomarker of early cardiac phenotypic changes in Fabry disease.BMC cardiovascular disorders
Case reportClinical outcomes of agalsidase Beta (fabrazyme) in Chinese fabry disease patients with proteinuria: a case series.Frontiers in pediatrics
Case reportRenal involvement in Fabry disease from Tunisian families: Six case reports.World journal of nephrology
Case reportCase Report: Fabry disease mimicking coronary artery disease and hypertrophic cardiomyopathy-a 15-year diagnostic delay.Frontiers in cardiovascular medicine
Not labelled yetCould Fabry Disease Cause Giant Coronary Aneurysms in a 7-Month-Old Infant: A Case Report.Clinical case reports
Not labelled yetMitochondrial stress markers associate with phenotypic variability in Fabry disease.Orphanet journal of rare diseases
Case reportAn Unusual Etiology of Bayés' Syndrome: Fabry Disease.Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc
Not labelled yetEvidence for hippocampal globotriaosylceramide (Gb3) accumulation and spatial memory impairment in a mouse model of Fabry disease.Neurobiology of disease
Not labelled yetPerception and knowledge of Fabry disease: a comparative survey of patients and medical professionals in South Korea.Scientific reports
Case reportLate diagnosis of late onset Fabry disease.BMJ case reports
Case reportRapid Progression of Coronary Disease in Fabry Disease: Vulnerable Plaque by Intravascular Ultrasound.JACC. Case reports
Case reportPhenotypic Variability of Kidney Involvement in Fabry Disease-Lessons from a Family Study.Life (Basel, Switzerland)
Not labelled yetIdentification of Potential Proteins Interacting with α-Galactosidase A to Analyze the Pathogenesis of Fabry Disease.International journal of molecular sciences
Case reportCase Report: Is it COPD? It is Fabry disease: a case in which bronchodilators were briefly used but not continued, prioritizing enzyme replacement therapy.Frontiers in pharmacology
Not labelled yetFrom 'Pseudo-Fabry' to true hypertrophic cardiomyopathy: a case of artefactual T1 reduction due to contrast contamination.Acta cardiologica
Not labelled yetTri-Parametric Assessment of α-Galactosidase A Activity, lysoGb3 and X-Inactivation Aids Genotype-Phenotype Categorization of Fabry Disease Female Patients.Journal of inherited metabolic disease
ReviewFabry Disease: Current Perspectives on Diagnosis and Management Strategies.Advances in kidney disease and health
Not labelled yetIncreased Risk of Injury in Patients with Fabry Disease: A Nationwide Population-Based Cohort Study in Taiwan.International journal of medical sciences
Not labelled yetNewborn screening for Fabry disease in Japan: an additional 3-year report.Molecular genetics and metabolism reports
Not labelled yetMultimodal phenotypic clustering predicts cardiac outcomes in Fabry disease.Orphanet journal of rare diseases
Case reportFrom diagnosis to disease-specific treatment: first experience with enzyme replacement therapy for Fabry disease in North Macedonia-a case series.Frontiers in medicine
Case reportA Rare Case of Fabry Disease Combined With Idiopathic Multicentric Castleman Disease and Membranous Nephropathy.Kidney medicine
Not labelled yetEvaluation of corneal morphology, pupillometry, and ocular surface parameters in Fabry disease patients: correlation with plasma Lyso-Gb3 levels.International ophthalmology
Not labelled yetHuman α-galactosidase A is stimulated by folic acid supplementation - possible implications in Fabry disease management.PloS one
Not labelled yetDifferential diagnosis of hypertrophic cardiomyopathy, fabry cardiomyopathy and cardiac amyloidosis: insights from right ventricular strain imaging echocardiography.The international journal of cardiovascular imaging
Not labelled yetExecutive summary of evidence-based clinical practice guideline for Fabry nephropathy.Kidney research and clinical practice
Not labelled yetThe impact of cardiovascular risk factors in non-classical Fabry disease.Orphanet journal of rare diseases
Not labelled yetAutomatic Coregistration of High-Resolution MALDI-MSI and Raman Imaging Applied to Cardiac Tissue of Fabry Disease Mouse Models.Analytical chemistry
Not labelled yet9th Update on Fabry Disease.Nephron
Observational studyReal world outcomes of Fabry disease in Italian excellence centers: the ground study.Orphanet journal of rare diseases
ReviewModeling Fabry nephropathy: insights from experimental systems towards precision nephrology.Disease models & mechanisms
Not labelled yetMiR-19a-3p: a potential biomarker for predicting cardiac risk in anderson-fabry disease.Journal of cardiothoracic surgery
ReviewPathophysiological mechanisms of organ injury in Fabry disease: Update via multi-omics.Genes & diseases
Not labelled yetImpact of migalastat therapy on corneal deposits in a female with Fabry disease: A case report.Molecular genetics and metabolism reports
Not labelled yetFabry Disease Presenting as End-Stage Hypertrophic Cardiomyopathy: Diagnostic Pitfalls and Lessons Learned: JACC Case Rep. 2025;106032.JACC. Case reports
Not labelled yetEffectiveness and tolerability of migalastat in adult Fabry disease: A single regional centre experience.Molecular genetics and metabolism reports
Not labelled yetTolerability of SGLT2 inhibitors in patients with Fabry disease: An observational study.American heart journal plus : cardiology research and practice
Not labelled yetNanomedicines for DNA and interference RNA co-delivery: Combined gene therapy for Fabry disease.International journal of pharmaceutics: X
Not labelled yetSex-Based Disparities in Fabry Disease Cause Challenges in Newborn Screening.Public health genomics
ReviewA proteomic atlas phenotyping Fabry disease identifies a precise cardiovascular risk signature that integrates mitochondrial and lysosomal pathways.Journal of molecular medicine (Berlin, Germany)