Clinical Practice of Multidisciplinary Team-Guided Comprehensive Management for Pediatric Patients with Fabry Disease: A Single-Center Case Series.

Inflammation and autophagy impairment in presymptomatic pediatric patients with Fabry disease identified by newborn screening.

Extracellular Vesicles as Novel Mediators of Pathology in Anderson Fabry Disease.

Spinal Anesthesia in a Respiratory-Compromised Patient With Fabry Disease Undergoing Umbilical Hernia Repair: A Case Report.

Long-term efficacy and safety of pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease: results from up to 5 years of the BRIGHT F51 phase III, open-label extension study.

Key considerations for measuring α-galactosidase A activity after long-term migalastat therapy-Avoiding in vitro inhibition effects.

Clinical awareness and targeted manual urine microscopy enable diagnosis of a fabry disease family missed by routine urinalysis.

[A case of Fabry disease in a family with GLA gene c.92C>A mutation].

[Systemic lupus erythematosus in a child complicated with Fabry disease].

Advancing Gene Therapies and Novel Treatment Strategies for Infiltrative Cardiomyopathies: A Comprehensive Review of Targeted Interventions.

Molecular, Metabolic and Inflammatory Patterns Involved in Pathogenesis of Anderson-Fabry Disease.

Diagnostic Performance of Relative Apical Sparing Across Cardiac Diseases: A Multimodality Systematic Review and Meta-Analysis.

Intense Myocardial Uptake in a Patient with Fabry Disease - a new cause of false positive of Bone Scintigraphy mimicking cardiac amyloidosis.

Signal Peptide Engineering and Codon Optimization to Enhance α-Gal A Activity for rAAV Gene Therapy of Fabry Disease.

Impact of SGLT2 inhibitors in patients with Fabry disease.

Introducing Cardiac Magnetic Resonance in Athlete Screening: An Initial Moroccan Experience With Professional Football Players.

Coronary Microvascular Dysfunction in Cardiomyopathies: Insights on Clinical and Prognostic Roles.

Risk stratification in Fabry disease: what do current models really tell us?

Cardiac manifestations of Fabry disease.

Use of nonsteroidal mineralocorticoid receptor antagonist in chronic kidney disease: A case report of a patient with Fabry disease in his mid-20s.

Concomitant immunoglobulin A nephropathy and membranous nephropathy with Fabry-like zebra bodies: A case report and literature review.

Immunogenicity in Fabry Disease: Current Issues, Coping Strategies, and Future Directions.

Fabry Disease: A Focus on the Role of Oxidative Stress.

Multidisciplinary approach to the assessment and management of children with Fabry disease: Insights from the Chinese Children Genetic Kidney Disease Database.

The role of quantitative cardiovascular MRI and late gadolinium enhancement patterns in differentiating late-onset Anderson-Fabry disease (c.640-801G > A) from hypertrophic cardiomyopathy: a case-control study.

Lecithin-cholesterol acyltransferase deficiency with the finding of "zebra bodies": A diagnostic challenge in the context of suspected Fabry disease.

Staging of Fabry cardiomyopathy in clinical practice: an algorithm proposal.

The kidney in genetic metabolic disorders.

Case Report: Fabry disease presenting with electrocardiographic findings mimicking acute myocardial infarction: a diagnostic challenge.

From Shoulder to Heart: Acute Shoulder Pain Leads to a Diagnosis of Fabry Disease.

Physical Fitness and Physical Function in Patients With Fabry Disease: A Cross-Sectional Multicentre Study.

Dapagliflozin in Patients With CKD With Fabry Disease.

Sex-Specific Diagnostic Inequality in Fabry Disease: Lessons Learned from Analysis of Newborn Screening and Cascade Testing in Tennessee from 2017 to 2024.

An unusual trilogy: a case of comorbid aHUS, Fabry disease, and hypertrophic cardiomyopathy.

Urinary VEGF-A165b mRNA expression in Fabry disease: Pilot study.

Cardiovascular Morbidity and Mortality in Fabry Disease.

A Meta-Analysis to Unveil the Diagnostic Gaps in Anderson-Fabry Disease in Women.

Successful experience with high-risk and family screening for Fabry disease in Ninghai County, Zhejiang Province, Eastern China: genotype‒phenotype analysis of the GLA IVS4 + 919G > A variant.

From Composite Events to Clinical Action: Disentangling Arrhythmia Risk in a New Fabry CMR Prognostic Score.

Two diseases presenting only as cardiac hypertrophy: differences between the late-onset Fabry disease cardiac variant and hypertrophic cardiomyopathy.

[Diagnosis and treatment of infective endocarditis in patient with Fabry disease: a case report].

Rationale, Objectives and Study Design of the Taiwan Registry of Hypertrophic Cardiomyopathy (THIC).

A rapid method to reduce drug interferences for antibody measurements in pegunigalsidase alfa-treated patients with Fabry disease.

Corneal confocal microscopy as a paraclinical test in neurodegenerative disease: a scoping review.

A New Class of Pathogenic Non-Coding Variants in GLA.

Characteristics of motor polyneuropathy in Fabry disease: a case-control study.

Case Report: Novel GLA mutation in a Chinese female with renal-predominant Fabry disease and cardiac hypertrophy.

Heat shock protein 70s are modifiers of endothelial function in Fabry disease.

Distinctive imaging of rare anterior subcapsular lens deposits in Fabry disease.

Evaluation of Patients Diagnosed with Inherited Metabolic Diseases in Adulthood.

Elevated circulating cell-free mitochondrial DNA in fabry disease: insights into inflammatory activation.

Targeted questionnaires improve detection of early gastrointestinal symptoms in young children with Fabry disease.

Expert opinion on facilitating intrafamily communication in rare diseases-Lessons from Fabry disease.

Cutaneous leukocytoclastic vasculitis as a nonclassical presentation of Fabry disease in an adult female patient.

Endothelial dysfunction in Fabry disease: retinal biomarkers link cardiac GLA gene variants with chronic inflammation.

Fabry disease cardiomyopathy: A practical guide for cardiologists.

Drug-induced phospholipidosis of the kidney suspected to be caused by atomoxetine.

[A case report of a family with Fabry's disease first diagnosed as myocardial ischemia].

Zebra bodies recognition by artificial intelligence (ZEBRA): a computational tool for Fabry nephropathy.

Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohort.

Lucerastat, an oral therapy for Fabry disease: results from a pivotal randomized phase 3 study and its open-label extension.

Diagnosis, treatment, and follow-up of Fabry disease in pediatrics.

Coexistence of Alport Syndrome and Fabry Disease in a Female with R112H Variant: Early Progression of Fabry Nephropathy.

Genetic Modeling of Lysosomal Storage Disorders (LSDs) in the Brain-Midgut Axis of Drosophila melanogaster During Aging.

Native T1 Mapping at Cardiac MRI: A Biomarker for Quantifying Glycosphingolipid Accumulation Severity in Fabry Disease.

Systemic metabolic reprogramming and microbial dysbiosis in Fabry disease: Multi-omics mechanisms and implications for drug development.

Simultaneous Determination of Lyso-Gb1 and Lyso-Gb3 in Plasma Using Salt-Assisted Liquid-Liquid Extraction Combined with LC-MS/MS.

A non-coding signature in SHROOM3 is associated with kidney disease progression in Fabry disease.

Perivascular spaces and basilar artery remodeling in Fabry disease-a dual vascular pathology.

Lysosomal storage diseases in North America: a comprehensive review of enzyme therapies and unmet needs.

Newborn Screening in Fabry Disease.

Hypertrophic Cardiomyopathy Phenocopies: Classification, Key Features, and Differential Diagnosis.

Long-Term Enzyme Replacement Therapy and Renal Outcomes in Fabry Disease: A Systematic Review and Meta-Analysis.

Usefulness of electron microscopy in the diagnosis of heterozygous Fabry disease with left ventricular outflow tract obstruction masquerading as hypertrophic cardiomyopathy.

Intravenous administration of EXG110 resulted in substrate correction in Fabry mice and sustained enzyme activity in non-human primates.

Impact of enzyme replacement therapy on hearing sensitivity in Fabry disease: A systematic review.

Towards a better definition of left ventricular hypertrophy in Fabry disease: sex-specific thresholds to personalize prognostication.

Impact of migalastat on cerebral outcomes in fabry disease - results from the prospective observational FAMOUS trial.

Hydroxychloroquine-Induced Renal Phospholipidosis.

Prognostic role of myocardial storage, hypertrophy and inflammation/fibrosis in Fabry Cardiomyopathy: a new predictive score including T1 values.

Small fiber neuropathy in pediatric female heterozygotes of Fabry disease: a twin case report.

Clinical outcomes in Fabry patients switching to agalsidase beta for renal ineffectiveness of the primary Fabry therapy: a single-centre analysis.

Underrecognized need for early detection of inborn errors of metabolism in China: A population-based study of 14.31 million residents (2012-2023).

Multimodality imaging assessment of cardiac involvement in classic and late-onset Anderson-Fabry disease.

Cardiac characteristics of Fabry disease from baseline enrolment data in a nationwide prospective Japanese registry.

[A case report of Fabry cardiomyopathy related to a de novo mutation of GLA gene].

A case of cardiac involvement in Fabry disease caused by the p.D313Y variant of the GLA-gene.

Juvenile-Onset Fabry Disease Presenting with Recurrent Fever and Arthralgia.

Patterns of Left Ventricular Remodeling and Outcomes in Fabry Disease.

Current Achievements in Gene Therapy Strategies and Delivery Systems in Preclinical and Clinical Models of Heart Failure.

Long-Term Cardiac Stability Despite Late Enzyme Replacement Therapy in Fabry Disease With Severe Renal Involvement.

Patient journey to Fabry disease diagnosis in the United States: an observational retrospective analysis of two United States claims databases.

Cardiac manifestations of Fabry disease: are women getting enough attention?

Exosome-Based Proteomic Profiling for Biomarker Discovery in Pediatric Fabry Disease: Insights into Early Diagnosis Monitoring.

White Matter Microstructural Alterations Are Linked to Cognitive Impairment in Patients with Fabry Disease: an Automated Fiber Quantification Study.

Axon guidance deficits in a human sensory-like neuron model of Fabry disease.

Left ventricular myocardial work combined with stress echocardiography assessment of cardiac function in patients with Fabry disease.

Spinal anesthesia in a patient with Fabry disease and multiorgan involvement: a rare case with long-term success.

Detection of mulberry bodies using molecular imaging flow cytometry.

Gastrointestinal symptoms in adults with Fabry disease and their associations with physical and mental health.

[Erratum to "Fabry disease during the last 20 years: Analysis of a cohort of 107 patients, and focus on the F113L variant" [Rev Med Interne 46 (2025) 571-574]].

The insidious degeneration of white matter and cognitive decline in Fabry disease.

Historical Control Analysis Demonstrates Greater Long-Term Reduction in Plasma Globotriaosylceramide (Gb3) by Venglustat Compared With Placebo or Agalsidase Beta in Male Patients With Classic Fabry Disease.

Therapeutic landscape of Fabry disease: advances and challenges from classical strategies to emerging therapies.

RETRACTED: Fabry Disease Presenting as End-Stage Hypertrophic Cardiomyopathy: Diagnostic Pitfalls and Lessons Learned.

Fabry Disease Nephropathy: Compendium of "in vitro" and "in vivo" Renal Effects of Globotriaosylsphingosine.

Common features of rare disease patients in the emergency department: a systematised literature review.

Not Just Neurons: Pain Is Orchestrated in Partnership with Many Non-neuronal Cells.

Reduced native T1 on cardiac magnetic resonance imaging as a novel marker of myocardial involvement in Niemann-Pick disease type B.

Transapical beating-heart septal myectomy for Fabry cardiomyopathy with left ventricular outflow tract obstruction: a retrospective case series.

Risk factors, stroke rates and aspirin prescribing trends in the Canadian Fabry disease initiative cohort.

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).

Stroke in Fabry Disease: Identification of Risk Factors for Stroke in a Large Single-Centre Cohort.

Long-term effectiveness and safety outcomes in adults with Fabry disease treated with agalsidase alfa: 20 years of data from the Fabry Outcome Survey.

Arrhythmias and clinical outcomes in Fabry disease with cardiac and renal involvement.

Multimodality Imaging of a Woman With Hypertrophic Cardiomyopathy and Fabry Disease.

Left atrial strain tracks abnormal ventricular mechanics in Fabry disease.

One IV HEDGES DNA vector administration encoding hGLA or hGH produces durable hGLA and hGH serum lvels in immunocompetent mice.

One SQ HEDGES DNA vector only dose produces durable hGLA or anti-SARS-CoV-2 mAb therapeutic serum protein levels.

Troponin rise in Fabry disease: an Australian perspective.

Differentiating Anderson-Fabry Disease from Other Causes of Left Ventricular Hypertrophy: Novel Insights from Left Atrial Strain Imaging.

Renoprotective effects of SGLT2 inhibitors in patients with Fabry disease.

Fabry Disease Screening in Patients with Idiopathic HCM or LVH: Data from the Multicentric Nationwide F-CHECK Study.

Epigenetic Mechanisms in Fabry Disease: A Thematic Analysis Linking Differential Methylation Profiles and Genetic Modifiers to Disease Phenotype.

Volumetric MRI of dorsal root ganglia as a biomarker for disease progression and response to AAV treatment in a mouse model of Fabry disease.

Prevalence of Fabry disease in cryptogenic stroke: a systematic review and meta-analysis with meta-regression.

Fabry disease: The crucial role of the interhospital Heart Team in the diagnostic process of this rare disease.

Clinical and Biochemical Characterization of Fabry Disease Associated GLA Gene Variants: Data From a Large Cohort of 469 Thousand Genotyped Subjects of the UK Biobank Database.

Pulmonary Manifestations of Lysosomal Storage Disorders in Adults.

Lysosomal Network Defects in Early-Onset Parkinson's Disease Patients Carrying Rare Variants in Lysosomal Hydrolytic Enzyme Genes.

Fabry Disease Associated With Myelodysplastic Syndrome: Case Report.

The Evolving Landscape of Hypertrophic Cardiomyopathy: Phenocopies and Diagnostic Pathways in Hypertrophic Cardiomyopathy.

Pathological capillary analysis of ischemia with non-obstructive coronary arteries in a Fabry disease patient receiving enzyme replacement therapy.

Optimizing α-galactosidase A enzyme cutoff for Fabry disease screening in chronic kidney disease patients: a single-center reassessment of diagnostic yield and cost-effectiveness.

Episodic pain in Fabry disease is mediated by a heat shock protein-transient receptor potential cation channel A1 axis.

The prokineticin system and glia cells as pharmacological targets to control neuroinflammation and to relieve pain in a murine model of Fabry-Anderson disease.

Adequate hemodialysis does not compromise the cardioprotective effect of agalsidase alfa on patients with Fabry disease: a case report.

Cardiac Phenotypes in Fabry Disease: Genetic Variability and Clinical Severity Staging Correlation in a Reference Center Cohort.

Genetic and epigenetic architectures of stroke: Insights from GWAS to precision medicine.

Parental psychosocial outcomes after a positive newborn screen for a lysosomal storage disorder.

Corneal neuro-immune crosstalk in Fabry disease: An in vivo confocal microscopic study.

Sex-specific prognostic thresholds of left ventricular hypertrophy in fabry disease.

Non-Pulmonary Vein Substrate Ablation of Recurrent Atrial Fibrillation in the Patient With Fabry Disease.

Looking for Fabry, Finding More: LVH Screening Yields Unexpected Gaucher Diagnosis.

Case Report: Fabry disease overlapping with systemic lupus erythematosus in a pediatric patient.

A Novel GLA Gene Variant in Fabry Disease: Corneal Verticillata and Multimodal Ocular Imaging Findings.

Systemic inflammation in Fabry disease: a longitudinal immuno-genetic analysis based on variant stratification.

Is Fabry disease more prevalent than we think? Understanding the critical role of family screening can make all the difference.

Coexistence of Fabry Disease and Antiphospholipid Syndrome: A Prospective Cohort Study.

Perspectives on newborn screening for Fabry disease based on mothers' experiences in Japan.

RNA-based therapeutic interventions for the management of Anderson-Fabry disease.

Fabry disease in women: still hidden or overlooked diagnosis?

Functional and histopathologic correlation in the fabry nephropathy with N215S genotype.

Long-term efficacy of migalastat in females with Fabry disease.

Prevalence of lysosomal storage disease (LSD) in Malaysia.

Medical Expert Knowledge Meets AI to Enhance Symptom Checker Performance for Rare Disease Identification in Fabry Disease: Mixed Methods Study.

Could a DJ-1/PARK7 pathogenic variant be a cause of cardiac hypertrophy?-a case report.

[State of the art and projects of the Italian Fabry Disease Cardiovascular Registry].

Cardiopulmonary exercise test and stress echocardiography in Fabry cardiomyopathy: insights into functional impairment and risk stratification.

Early diagnosis of cardiac involvement in Anderson-Fabry disease using cardiac MRI parameters.

Fabry disease cardiomyopathy: A state-of-the-art review.

Fabry disease and evolving story of I198T and A143T: Variants of varying clinical consequence (VVCC).

Evaluation of GLA variants detected in newborn screening for Fabry disease using biomarker analysis.

[Fabry disease during the last 20 years: Analysis of a cohort of 107 patients, and focus on the F113L variant].

Fabry nephropathy and membranous lupus nephritis-an unexplored link.

Reduced-intensity conditioning in LV-mediated gene therapy for Fabry disease targeting HSPCs.

Progression of left ventricular mass is associated with clinical events in key subgroups of Fabry disease: Analyses from the Fabry Registry.

High-Resolution Mass Spectrometry Method for Targeted Screening and Monitoring of Fabry, Gaucher and ASMD Using Dried Blood Spots and Capitainers: Impact of Sample Matrix on Measurement Results.

Fabry Disease Beyond Storage: The Role of Inflammation in Disease Progression.

Fabry disease in females: organ involvement and clinical outcomes compared with the general population (103/150 characters).

The Utility of High-Sensitivity Troponin to Detect Cardiomyopathy in Patients With Fabry Disease.

Real-World Migalastat Use in Fabry Disease: Comparative Insights From the Pisani and Hughes Studies.

A multi-country time and motion study to describe the experience and burden associated with the treatment of Fabry disease with enzyme replacement therapy with agalsidase alfa and agalsidase beta.

Ocular and confocal manifestations of Mainland Chinese with Fabry disease: a cross-sectional controlled study.

In vivo imaging of dorsal root ganglia in the mouse: from ex vivo MR-microscopy towards quantitative in vivo MRI.

Gene therapy for lysosomal storage diseases.

[A little bit about sphingolipidoses in cardiology: a clinical case of Fabry disease].

Novel Clinical Trial Design With Stratum-Specific Endpoints and Global Test Methods for Rare Diseases With Heterogeneous Clinical Manifestations.

A phase 4, open-label, multicenter study of the safety and efficacy of agalsidase beta in Chinese patients with Fabry disease.

Magnetic resonance imaging morphological features of the cisternal segment of the trigeminal nerve in Fabry disease.

Clinical Efficacy and Real-World Effectiveness of Fabry Disease Treatments: A Systematic Literature Review.

Comparative Evaluation of AAV8 and AAV9 Gene Therapy in Fabry Knockout (Gla-/y) and Symptomatic (G3STg/+Gla-/y) Murine Models.

Unveiling Functional Impairment in Fabry Disease: The Role of Peripheral vs. Cardiac Mechanisms.

A composite measurement concept for monitoring cardiac function in Fabry disease.

Cardiac magnetic resonance imaging in Fabry disease.

Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy.

Genetics, cardiac phenotype and cardiovascular outcomes in Fabry disease patients in Finland.

ASIC1a-associated mechanical hypersensitivity in the GlaKO Fabry disease mouse model.

Urine-derived renal epithelial cells for deep phenotyping and transcriptomic response to therapy in Fabry disease.

[Inherited metabolic disorders in adults:growing patient numbers, advanced diagnostic tools and new treatment modalities].

Identification of genetic variants associated with Fabry nephropathy progression using whole-exome sequencing.

Untargeted Lipidomics in Fabry Disease of Urine Samples by Low-Resolution Flow Injection Mass Spectrometry (ESI(±)-LTQ MS).

Damus-Kaye-Stansel anastomosis with pulmonary arterial trunk reconstruction using valved conduit 20 years after Fontan procedure.

Cellular Lyso-Gb3 Is a Biomarker for Mucolipidosis II.

Multidisciplinary Care Model as a Center of Excellence for Fabry Disease: A Practical Guide to Diagnosis and Management by Clinical Specialty in South Korea.

Navigating Fabry Disease in a Military Aviator.