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Fabry disease
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Publications and studies (1330)
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. [A case report of Fabry cardiomyopathy related to a de novo mutation of GLA gene]. (2025/12/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Current Achievements in Gene Therapy Strategies and Delivery Systems in Preclinical and Clinical Models of Heart Failure. (2025/11/29) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Patient journey to Fabry disease diagnosis in the United States: an observational retrospective analysis of two United States claims databases. (2025/11/27) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Pathophysiological mechanisms of organ injury in Fabry disease: Update via multi-omics. (2025/11/25) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Oncological outcomes of planned and unplanned low Hartmann's procedure and restorative low anterior resection for rectal cancer: a population-based cross-sectional study. (2025/11/23) ♡
- Left ventricular myocardial work combined with stress echocardiography assessment of cardiac function in patients with Fabry disease. (2025/11/21) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. The Role of Skin Innervation for Assessment of Neurological Involvement in Disorders: A Review. (2025/11/21) ♡
- Gastrointestinal symptoms in adults with Fabry disease and their associations with physical and mental health. (2025/11/19) ♡
- The insidious degeneration of white matter and cognitive decline in Fabry disease. (2025/11/17) ♡
- Impact of Increased Use of Single-Inhaler Triple Therapies on COPD Exacerbation Rates, Mortality, and Total Costs: PROMETHEUS France. (2025/11/17) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A case of cardiac involvement in Fabry disease caused by the p.D313Y variant of the GLA-gene. (2025/11/15) ♡
- Retracted publicationiThis research has been withdrawn by science itself, for example due to a flaw in the method or unreliable data. Do not use it as support and do not discuss it as evidence. RETRACTED: Fabry Disease Presenting as End-Stage Hypertrophic Cardiomyopathy: Diagnostic Pitfalls and Lessons Learned. (2025/11/14) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Common features of rare disease patients in the emergency department: a systematised literature review. (2025/11/13) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Hydroxychloroquine-Induced Renal Phospholipidosis. (2025/11/13) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Not Just Neurons: Pain Is Orchestrated in Partnership with Many Non-neuronal Cells. (2025/11/12) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Clinical Experience with Inosine Pranobex in Pediatric Acute Respiratory Infections with Comorbidities: A Case Series from a Specialised Centre. (2025/11/10) ♡
- Risk factors, stroke rates and aspirin prescribing trends in the Canadian Fabry disease initiative cohort. (2025/11/07) ♡
- Arrhythmias and clinical outcomes in Fabry disease with cardiac and renal involvement. (2025/11/05) ♡
- Parental psychosocial outcomes after a positive newborn screen for a lysosomal storage disorder. (2025/11/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Genetic and epigenetic architectures of stroke: Insights from GWAS to precision medicine. (2025/11/01) ♡
- 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. (2025/11/01) ♡
- Troponin rise in Fabry disease: an Australian perspective. (2025/11/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. [Finger lesions]. (2025/11/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Multimodality Imaging of a Woman With Hypertrophic Cardiomyopathy and Fabry Disease. (2025/11/01) ♡
- Stroke in Fabry Disease: Identification of Risk Factors for Stroke in a Large Single-Centre Cohort. (2025/11/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Transapical beating-heart septal myectomy for Fabry cardiomyopathy with left ventricular outflow tract obstruction: a retrospective case series. (2025/11/01) ♡
- Phase 3 studyiResearch in a large group of patients, the final step before a treatment can be approved. What comes out here carries significant weight. 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. (2025/11/01) ♡
- One SQ HEDGES DNA vector only dose produces durable hGLA or anti-SARS-CoV-2 mAb therapeutic serum protein levels. (2025/10/31) ♡
- One IV HEDGES DNA vector administration encoding hGLA or hGH produces durable hGLA and hGH serum lvels in immunocompetent mice. (2025/10/31) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Left atrial strain tracks abnormal ventricular mechanics in Fabry disease. (2025/10/31) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Therapeutic landscape of Fabry disease: advances and challenges from classical strategies to emerging therapies. (2025/10/31) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Volumetric MRI of dorsal root ganglia as a biomarker for disease progression and response to AAV treatment in a mouse model of Fabry disease. (2025/10/24) ♡
- Exosome-Based Proteomic Profiling for Biomarker Discovery in Pediatric Fabry Disease: Insights into Early Diagnosis Monitoring. (2025/10/23) ♡
- Meta-analysisiAll studies on one question combined and calculated together. This is the strongest form of research that exists: a single loose study can be coincidence, dozens together much less so. The label says something about the design, not about the outcome — which can also be that something does NOT work. Prevalence of Fabry disease in cryptogenic stroke: a systematic review and meta-analysis with meta-regression. (2025/10/22) ♡
- Renoprotective effects of SGLT2 inhibitors in patients with Fabry disease. (2025/10/17) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Epigenetic Mechanisms in Fabry Disease: A Thematic Analysis Linking Differential Methylation Profiles and Genetic Modifiers to Disease Phenotype. (2025/10/16) ♡
- Fabry Disease Screening in Patients with Idiopathic HCM or LVH: Data from the Multicentric Nationwide F-CHECK Study. (2025/10/16) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Spinal anesthesia in a patient with Fabry disease and multiorgan involvement: a rare case with long-term success. (2025/10/15) ♡
- Clinical outcomes in Fabry patients switching to agalsidase beta for renal ineffectiveness of the primary Fabry therapy: a single-centre analysis. (2025/10/15) ♡
- Evaluation of Patients Diagnosed with Inherited Metabolic Diseases in Adulthood. (2025/10/13) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Cutaneous leukocytoclastic vasculitis as a nonclassical presentation of Fabry disease in an adult female patient. (2025/10/11) ♡
- Fabry Disease Associated With Myelodysplastic Syndrome: Case Report. (2025/10/10) ♡
- Reduced native T(1) on cardiac magnetic resonance imaging as a novel marker of myocardial involvement in Niemann-Pick disease type B. (2025/10/10) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. The Evolving Landscape of Hypertrophic Cardiomyopathy: Phenocopies and Diagnostic Pathways in Hypertrophic Cardiomyopathy. (2025/10/01) ♡
- Lysosomal Network Defects in Early-Onset Parkinson's Disease Patients Carrying Rare Variants in Lysosomal Hydrolytic Enzyme Genes. (2025/09/27) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Adequate hemodialysis does not compromise the cardioprotective effect of agalsidase alfa on patients with Fabry disease: a case report. (2025/09/26) ♡
- Non-Pulmonary Vein Substrate Ablation of Recurrent Atrial Fibrillation in the Patient With Fabry Disease. (2025/09/21) ♡
- Cardiac Phenotypes in Fabry Disease: Genetic Variability and Clinical Severity Staging Correlation in a Reference Center Cohort. (2025/09/15) ♡
- Longitudinal imaging of therapeutic enzyme expression after gene therapy for Fabry disease using positron emission tomography and the radiotracer [(18)F]AGAL. (2025/09/03) ♡
- Increased macrolide resistance in Streptococcus pneumoniae in Slovakia may be linked to increased macrolide consumption. (2025/09/01) ♡
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