• "Every Cloud Has a Silver Lining": How Three Rare Diseases Defend Themselves from COVID-19 and What We Have Learnt from It
• 8th Update on Fabry Disease: Biomarkers, Progression and Treatment Opportunities in 2024
• A case of Fabry disease misdiagnosed for 30 years
• A Deep Learning Approach to Classify Fabry Cardiomyopathy from Hypertrophic Cardiomyopathy Using Cine Imaging on Cardiac Magnetic Resonance
• A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem
• A systematic literature review on the health-related quality of life and economic burden of Fabry disease
• A Systematic Review on Safety and Efficacy of Migalastat for the treatment of Fabry's Disease
• Agalsidase alfa long-term effect on left ventricular hypertrophy in Fabry disease
• Amplification of autoimmune organ damage by NKp46-activated ILC1
• An Atypical Presentation of Fabry Disease in a Patient With Nephrotic Syndrome: A Case Report
• Analysis of Globotriaosylceramide (Gb₃) in Liquid Urine: A Straightforward Assay Using Tandem Mass Spectrometry
• Aseptic meningitis and Fabry disease
• Assessment of whole-body muscle MRI for the early diagnosis of Amyotrophic Lateral Sclerosis
• Atypical Subendocardial Late Gadolinium Enhancement in Anderson-Fabry Cardiomyopathy
• Cardiac manifestations in inherited metabolic diseases
• Cardiac manifestations of Fabry disease in G3Stg/GlaKO and GlaKO mouse models-Translation to Fabry disease patients
• Cardiopulmonary determinants of reduced exercise tolerance in Fabry disease
• Caseous Calcification of the Mitral Annulus: Calcified Toothpaste of the Heart
• Cases of Fabry Disease in Which Pathogenic Variants Are Not Detected in Parent-Child Pairs
• Clinical and pathophysiological correlates of basilar artery measurements in Fabry Disease
• Clinical outcomes in elderly patients receiving agalsidase alfa treatment in the Fabry Outcome Survey
• Clinical outcomes in patients switching from agalsidase beta to migalastat: A Fabry Registry analysis
• Cochleovestibular Signs As the First Manifestation of Fabry Disease: A Case Report and Literature Review
• Cold-evoked potentials in Fabry disease and polyneuropathy
• Complex management of Fabry cardiomyopathy: a case report on the use of alcohol septal ablation and chaperone therapy
• Corrigendum: Infertility in Fabry's disease: role of hypoxia and inflammation in determining testicular damage
• CRISPR/Cas9-based GLA knockout to generate the female Fabry disease human induced pluripotent stem cell line MHHi001-A-15
• CRISPR/Cas9-mediated suppression of A4GALT rescues endothelial cell dysfunction in a fabry disease vasculopathy model derived from human induced pluripotent stem cells
• Detection of α-Galactosidase A Reaction in Samples Extracted from Dried Blood Spots Using Ion-Sensitive Field Effect Transistors
• Developing gene therapy for mitigating multisystemic pathology in Fabry disease: proof of concept in an aggravated mouse model
• Diagnosis of Fabry Disease Using Alpha-Galactosidase A Activity or LysoGb3 in Blood Fails to Identify Up to Two Thirds of Female Patients
• Diagnostic value of left ventricular layer strain and specific regional strain patterns in cardiac amyloidosis and Fabry disease
• Dorsal root ganglion magnetic resonance imaging biomarker correlations with pain in Fabry disease
• Double Hit of Hydroxichloroquine and Amiodarone Induced Renal Phospholipidosis in a Patient with Monoclonal Gammopathy and Sclerodermiform Syndrome: A Case Report and Review of the Literature
• Early impairment in mitochondrial quality check and function precedes the development of cardiac phenotypes in an mouse model of Fabry Disease
• Effects of Enzyme Replacement Therapy on Cardiac MRI Findings in Fabry Disease: A Systematic Review and Meta-Analysis
• Enhancing the performance of porous silicon biosensors: the interplay of nanostructure design and microfluidic integration
• Expanding the Neurological Phenotype of Anderson-Fabry Disease: Proof of Concept for an Extrapyramidal Neurodegenerative Pattern and Comparison with Monogenic Vascular Parkinsonism
• Fabry disease caused by the GLA p.Gly183Asp (p.G183D) variant: Clinical profile of a serious phenotype
• Fabry disease Enzyme Enhancement on migalastat Study: FEES
• Fabry Disease Rat Model Develops Age- and Sex-Dependent Anterior Segment Ocular Abnormalities
• Fabry disease: development and progression of left ventricular hypertrophy despite long-term enzyme replacement therapy
• Flow Cytometry-Based Assay to Detect Alpha Galactosidase Enzymatic Activity at the Cellular Level
• Focus on heart failure with preserved ejection fraction: from trials to the real world of the Friuli-Venezia Giulia Cardiovascular Observatory
• Genetic Diagnosis of Adult Hemodialysis Patients With Unknown Etiology
• Genome-wide expression analysis in a Fabry disease human podocyte cell line
• GLA insufficiency should not be called Fabry disease
• How do Physical Activity and Exercise affect Fabry Disease? Exploring a New Opportunity
• Identification of a novel nonsense mutation in alpha-galactosidase A that causes Fabry disease in a Chinese family
• Importance of lysosomal storage diseases in rheumatology
• In vivo demonstration of globotriaosylceramide brain accumulation in Fabry Disease using MR Relaxometry
• Incidence and risk factors for development of left ventricular hypertrophy in Fabry disease
• Indications for genetic diagnosis in children with growth hormone deficiency and born small for gestational age
• Inflammation and Exosomes in Fabry Disease Pathogenesis
• Inflammation in Fabry disease: stages, molecular pathways, and therapeutic implications
• Inflammation, Oxidative Stress, and Endothelial Dysfunction in the Pathogenesis of Vascular Damage: Unraveling Novel Cardiovascular Risk Factors in Fabry Disease
• Inflammatory and Cardiovascular Biomarkers to Monitor Fabry Disease Progression
• Kidney involvement in rare hereditary diseases
• Late-onset renal variant Fabry disease with R112H mutation and mild increase in plasma globotriaosylsphingosine: a case report
• Left ventricular hypertrophy: do not forget Fabry disease. Diagnostic work-up and differential diagnosis
• Long-term safety of enzyme replacement therapy with agalsidase alfa in patients with Fabry disease: post-marketing extension surveillance in Japan
• LysoGb3 quantification facilitates phenotypic categorization of Fabry disease patients: Insights gained by a novel MS/MS method
• Magnetic resonance mapping for the assessment of cardiomyopathies and myocardial disease
• Multinational experience with next-generation sequencing: opportunity to identify transthyretin cardiac amyloidosis and Fabry disease
• Newborn Screening for 6 Lysosomal Storage Disorders in China
• No evidence of Fabry disease in a patient with the new p.Met70Val GLA gene variant
• Noncanonical WNT5A controls the activation of latent TGF-β to drive fibroblast activation and tissue fibrosis
• Ocular Manifestations of Fabry Disease: Report from a Tertiary Eye Care Center in Turkiye
• Oxidative stress and its role in Fabry disease
• Pegunigalsidase alfa: a novel, pegylated recombinant alpha-galactosidase enzyme for the treatment of Fabry disease
• Pharmacokinetics, Pharmacodynamics, Safety, and Tolerability of Oral AL01211 in Healthy Chinese Volunteers
• Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln GLA Variant in Anderson-Fabry Disease
• Plasma and platelet lipidome changes in Fabry disease
• Plot thickens: the progression of left ventricular 'hypertrophy' in Fabry disease
• Potential Usefulness of Lifetime Globotriaosylsphingosine Exposure at Diagnosis and Baseline Modified Disease Severity Score in Early-Diagnosed Patients With Fabry Disease
• Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies
• Prognostic implications of left ventricular hypertrophy and mechanical function in Fabry disease: A longitudinal cohort study
• Rapidly progressive cognitive impairment resulting in heavy psychosocial burden in a patient with Fabry disease undergoing hemodialysis: a case report
• Reduction in kidney function decline and risk of severe clinical events in agalsidase beta-treated Fabry disease patients: a matched analysis from the Fabry Registry
• Renal and multisystem effectiveness of 3.9 years of migalastat in a global real-world cohort: Results from the followME Fabry Pathfinders registry
• Reply: Left atrial strains in cardiac amyloidosis -does its subtype matter?
• Restoration of peripheral neuropathy in Fabry mice via intrathecal administration of an adeno-associated virus vector encoding mGLA cDNA
• SD-OCT Imaging of Macular Changes in Fabry Disease: A Case Report
• Spastic quadriparesis in Fabry disease: A diagnostic challenge
• Synthesis and glycosidase inhibition of 3,4,5-trihydroxypiperidines using a one-pot amination-cyclisation cascade reaction
• Systematic metabolomics study in the serum and urine of a mouse model of Fabry disease
• Systematic Review of Genetic Substrate Reduction Therapy in Lysosomal Storage Diseases: Opportunities, Challenges and Delivery Systems
• Teamwork and Nurse Care Coordination in Home Healthcare
• The Asian Fabry Cardiomyopathy High-Risk Screening Study 2 (ASIAN-FAME-2): Prevalence of Fabry Disease in Patients with Left Ventricular Hypertrophy
• The c.-265G>A GLA gene promoter variant causes Fabry disease: The hidden culprit identified
• The Effect of Fabry Disease Therapy on Bone Mineral Density
• The Italian Fabry Disease Cardiovascular Registry (IFDCR)
• The Missense Variant in the Signal Peptide of <em>α-GLA</em> Gene, c.13 A/G, Promotes Endoplasmic Reticular Stress and the Related Pathway's Activation
• The Relationship between Serum TWEAK Levels and Carotid Intima-media Thickness in Patients with Fabry Disease
• The role of genetic testing in diagnosing Fabry's disease and its overlapping with cardiomyopathies: a case series
• The role of podocyte injury in the pathogenesis of Fabry disease nephropathy
• Unveiling the untreated: development of a database algorithm to identify potential Fabry disease patients in Germany
• Usefulness of antibody-drug conjugate as preconditioning for hematopoietic stem cell-targeted gene therapy in wild-type and Fabry disease mouse models
• Ventricular arrhythmias and primary prevention of sudden cardiac death in Anderson-Fabry disease
• What is confirmed in the treatment of Fabry's disease?