Disease: Ceramide trihexosidosis
- "Every Cloud Has a Silver Lining": How Three Rare Diseases Defend Themselves from COVID-19 and What We Have Learnt from It
- A Case of Hypofractionated Radiation Therapy for Early-Stage Breast Cancer in a Patient With Fabry Disease
- A review and recommendations for oral chaperone therapy in adult patients with Fabry disease
- A systematic literature review on the health-related quality of life and economic burden of Fabry disease
- An Unusual Case of Anderson-Fabry Disease: Case Report
- Anderson-Fabry disease management: role of the cardiologist
- Anderson-Fabry Disease: Red Flags for Early Diagnosis of Cardiac Involvement
- Arrhythmogenesis in Fabry Disease
- Assessing brain involvement in Fabry disease with deep learning and the brain-age paradigm
- Baseline Characteristics of Fabry Disease "Amenable" Migalastat Patients in Argentinian Cohort
- Cardiac manifestations in inherited metabolic diseases
- Case report: enzyme replacement therapy for Fabry disease presenting with proteinuria and ventricular septal thickening
- Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers
- Chinese expert consensus on the diagnosis and treatment of adult Fabry disease cardiomyopathy
- Clinical Characteristics and Induced Pluripotent Stem Cells (iPSCs) Disease Model of Fabry Disease Caused by a Novel GLA Mutation
- Cluster analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases
- Cochleovestibular Signs As the First Manifestation of Fabry Disease: A Case Report and Literature Review
- Comment to: Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study-determination of immunogenicity
- Complement activation and cellular inflammation in Fabry disease patients despite enzyme replacement therapy
- Cornea verticillata in fabry disease
- Correction: A review and recommendations for oral chaperone therapy in adult patients with Fabry disease
- Correlation of X chromosome inactivation with clinical presentation of Fabry disease in a case report
- Corrigendum: Case report: De novo mutation of a-galactosidase A in a female patient with end-stage renal disease: report of a case of late diagnosis of Anderson-Fabry disease
- Corrigendum: Infertility in Fabry's disease: role of hypoxia and inflammation in determining testicular damage
- Detection of sympathetic denervation defects in Fabry disease by hybrid [<sup>11</sup>C]meta-hydroxyephedrine positron emission tomography and cardiac magnetic resonance
- Diet and Physical Activity in Fabry Disease: A Narrative Review
- Differences Between Two Distinct Hypertrophic Cardiac Conditions: Fabry Disease versus Hypertrophic Cardiomyopathy
- Does administration of hydroxychloroquine/amiodarone affect the efficacy of enzyme replacement therapy for Fabry mice?
- Elevated interleukin-8 expression by skin fibroblasts as a potential contributor to pain in women with Fabry disease
- Endomyocardial Biopsy in Clinical Practice: The Diagnostic Yield and Insights from a 5-Year Single-Center Experience
- Evaluating the Metabolic Basis of alpha-Gal A mRNA Therapy for Fabry Disease
- Evaluation, in a highly specialised enzyme laboratory, of a digital microfluidics platform for rapid assessment of lysosomal enzyme activity in dried blood spots
- Exosome Secretion and Cellular Signaling Change in a Fabry Disease Cell Model Induced by Gene-silencing
- Experience with cascade screening: A comprehensive family pedigree analysis of two index patients with Fabry disease
- Fabry disease in W162C mutation: a case report of two patients and a review of literature
- Fabry Disease in Women: Genetic Basis, Available Biomarkers, and Clinical Manifestations
- Fabry disease Schwann cells release p11 to induce sensory neuron hyperactivity
- Fabry disease: a rare disorder calling for personalized medicine
- Fabry Disease: Cardiac Implications and Molecular Mechanisms
- Fatigue as hallmark of Fabry disease: role of bioenergetic alterations
- Flow Cytometry-Based Assay to Detect Alpha Galactosidase Enzymatic Activity at the Cellular Level
- Generation of human induced pluripotent stem cell line MHHi029-A from a male Fabry disease patient carrying c.959A > T mutation
- Genetic variants of unknown significance in alpha-galactosidase A: Cellular delineation from Fabry disease
- Genotype-phenotype analysis of Fabry disease caused by GLA gene variation in a pedigree
- GLA Mutations Suppress Autophagy and Stimulate Lysosome Generation in Fabry Disease
- Globotriaosylsphingosine improves risk stratification of kidney progression in Fabry disease patients
- Hydroxychloroquine-Induced Renal Phospholipidosis: Case Report and Review of Differential Diagnoses
- Impact of Nontreatment Duration and Keratopathy on Major Adverse Cardiovascular Events in Fabry Disease: A Nationwide Cohort Study
- Impairment of sympathetic activity in Fabry disease cardiomyopathy: A further challenge for cardiac imaging
- In vitro characterization of cells derived from a patient with the GLA variant c.376A>G (p.S126G) highlights a non-pathogenic role in Fabry disease
- Incidence and risk factors for development of left ventricular hypertrophy in Fabry disease
- Increased prevalence of peripheral vestibular disorder among patients with Fabry disease
- Infertility in Fabry's Disease: role of hypoxia and inflammation in determining testicular damage
- Inflammation and Exosomes in Fabry Disease Pathogenesis
- Innate immune sensing of lysosomal dysfunction drives multiple lysosomal storage disorders
- Japanese Patient Engagement Promotion Training (J-PEPT): Learning course on the implementation strategy of patient engagement
- Label-Free Biochemical Sensing Using Processed Optical Fiber Interferometry: A Review
- Left atrial structural and functional remodelling in Fabry disease and cardiac amyloidosis: A comparative analysis
- Lessons learned from the Canadian Fabry Disease Initiative for future risk-sharing and managed access agreements for pharmaceutical and advanced therapies in Canada
- Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy
- Long-Term Clinical-Pathologic Results of Enzyme Replacement Therapy in Prehypertrophic Fabry Disease Cardiomyopathy
- Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature
- Mass cytometry reveals atypical immune profile notably impaired maturation of memory CD4 T with Gb3-related CD27 expression in CD4 T cells in Fabry disease
- miRNAs, PICP, and Extent of Cardiac Damage in Patients With Fabry Disease
- Monogenic systemic lupus erythematosus onset in a 13-year-old boy with Noonan like-syndrome: a case report and literature review
- Morbus Fabry and Parkinson's Disease-More Evidence for a Possible Genetic Link
- Multimodality Imaging of Fabry Disease Cardiomyopathy Complicated With Coronary Vasospasm
- New light shed on Anderson-Fabry, peripartum, and early-onset cardiomyopathies
- Newborn genetic screening for Fabry disease: Insights from a retrospective analysis in Nanjing, China
- Overexpression of VEGFalpha as a biomarker of endothelial dysfunction in aortic tissue of alpha-GAL-Tg/KO mice and its upregulation in the serum of patients with Fabry's disease
- Overexpression of VEGFα as a biomarker of endothelial dysfunction in aortic tissue of α-GAL-Tg/KO mice and its upregulation in the serum of patients with Fabry's disease
- Pathogenic pathways of renal damage in Fabry nephropathy: interplay between immune cell infiltration, apoptosis and fibrosis
- Patient-reported experience with Fabry disease and its management in the real-world setting: results from a double-blind, cross-sectional survey of 280 respondents
- 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
- Phase 1 Healthy Volunteer Study of AL01211, an Oral, Non-brain Penetrant Glucosylceramide Synthase Inhibitor, to Treat Fabry Disease and Type 1 Gaucher Disease
- Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln GLA Variant in Anderson-Fabry Disease
- Pregnancy outcomes of Fabry disease in Austria (PROFABIA)-a retrospective cohort-study
- Prevalence of Fabry disease and GLA variants in young patients with acute stroke: The challenge to widen the screening. The Fabry-Stroke Italian Registry
- Prognostic significance of MRI-detected extramural venous invasion according to grade and response to neo-adjuvant treatment in locally advanced rectal cancer A national cohort study after radiologic training and reassessment
- Reducing agalsidase beta infusion time in Fabry patients: low incidence of antibody formation and infusion-associated reactions in an Italian multicenter study
- Reply: miRNAs, PICP, and Extent of Cardiac Damage in Patients With Fabry Disease
- Respiratory impairments in patients suffering from Fabry disease - A cross-sectional study
- Response to commentary: Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study - determination of immunogenicity
- Right heart and left atrial strain to differentiate cardiac amyloidosis and Fabry disease
- Serum Neopterin, Biopterin, Tryptophan, and Kynurenine Levels in Patients with Fabry Disease
- Small fibre neuropathy in Fabry disease: a human-derived neuronal in vitro disease model and pilot data
- Successful treatment using agalsidase alfa of a patient with Fabry disease who had anaphylaxis after agalsidase beta: A case report
- Targeting strategies with lipid vectors for nucleic acid supplementation therapy in Fabry disease: a systematic review
- The Diagnostic and Therapeutic Implications of Phenocopies and Mimics of Hypertrophic Cardiomyopathy
- The role of tubular cells in the pathogenesis of Fabry nephropathy
- Therapeutic Strategy for Fabry Disease by Intravenous Administration of Adeno-Associated Virus 9 in a Symptomatic Mouse Model
- Towards etiological treatments in cardiomyopathies
- Transcatheter Edge-to-Edge Mitral Valve Repair in a Patient With Anderson-Fabry Disease
- Update: Heart Failure with Preserved Ejection Fraction
- Updated Evaluation of Agalsidase Alfa Enzyme Replacement Therapy for Patients with Fabry Disease: Insights from Real-World Data
- Use of T1 mapping in cardiac MRI for the follow-up of Fabry disease in a pediatric population
- Vericiguat improves cardiac function and microcirculation of a male patient with Fabry disease: A case report
- What Is Hidden in Patients with Unknown Nephropathy? Genetic Screening Could Be the Missing Link in Kidney Transplantation Diagnosis and Management
- What should rheumatologists know about Gaucher disease and Fabry disease? Connecting the dots for an overview