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Fabry disease
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Publications and studies (1331)
- Screening for Fabry Disease-Related Mutations Among 829 Kidney Transplant Recipients. (2024/11/22) ♡
- 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. Anderson-Fabry Disease: Focus on Ophthalmological Implications. (2024/11/22) ♡
- Inferolateral Fibrosis in a Nonhypertrophic Left Ventricle. (2024/11/20) ♡
- 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. Complement System and Adhesion Molecule Skirmishes in Fabry Disease: Insights into Pathogenesis and Disease Mechanisms. (2024/11/14) ♡
- Preclinical efficacy and safety of adeno-associated virus 5 alpha-galactosidase: A gene therapy for Fabry disease. (2024/11/12) ♡
- 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. Artificial Intelligence in Nephrology: Clinical Applications and Challenges. (2024/11/12) ♡
- Effectiveness and safety of enzyme replacement therapy in the treatment of Fabry disease: a Chinese monocentric real-world study. (2024/11/11) ♡
- Safety and Tolerability of a Shorter Agalsidase Beta Infusion Time in Patients with Classic or Later-Onset Fabry Disease. (2024/11/11) ♡
- 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. Human Gb3/CD77 synthase: a glycosyltransferase at the crossroads of immunohematology, toxicology, and cancer research. (2024/11/07) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Patient with Fabry disease undergoing cardiac surgery: a word of caution. (2024/11/01) ♡
- Fabry disease in familial Mediterranean fever according to the severity of the disease. (2024/11/01) ♡
- Ten-Year Clinical Progression in a Patient with Fabry Disease: A Longitudinal Study. (2024/11/01) ♡
- Dirichlet latent modelling enables effective learning and sampling of the functional protein design space. (2024/10/29) ♡
- Exploring the diagnostic potential of miRNA signatures in the Fabry disease serum: A comparative study of automated and manual sample isolations. (2024/10/28) ♡
- 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. Human in vitro models for Fabry disease: new paths for unravelling disease mechanisms and therapies. (2024/10/24) ♡
- 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. Role of standard echocardiography in Anderson-Fabry disease. (2024/10/24) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Characteristics of Inherited Metabolic Disorders Following Kidney Transplantation: A 13-Year Observational Study. (2024/10/22) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Angiokeratomas in a patient with Fabry disease. (2024/10/21) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Fabry Disease: A Rare Mutation With Common Clinical Presentation. (2024/10/20) ♡
- 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. Quality of life and unmet needs in patients with fabry disease: a qualitative study. (2024/10/18) ♡
- Correction to: 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. (2024/10/17) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Optimised treatment of patients with enlarged lateral lymph nodes in rectal cancer: protocol of an international, multicentre, prospective registration study after extensive multidisciplinary training (LaNoReC). (2024/10/16) ♡
- Evaluation of global and regional myocardial work by echocardiography in patients with Fabry disease. (2024/10/16) ♡
- Impact of the Covid19 pandemic on health-related quality of life in patients with Fabry disease - implications for future care of patients with rare diseases. (2024/10/16) ♡
- Resistive index of central retinal artery, aortic arterial stiffness and OCTA correlated parameters in the early stage of fabry disease. (2024/10/14) ♡
- Using artificial intelligence and promoter-level transcriptome analysis to identify a biomarker as a possible prognostic predictor of cardiac complications in male patients with Fabry disease. (2024/10/13) ♡
- Infrared spectroscopy as a new approach for early fabry disease screening: a pilot study. (2024/10/10) ♡
- The unlikely combination: Anderson-Fabry disease and congenital dyserythropoietic anemia type II in a pediatric patient. (2024/10/08) ♡
- 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. Oncological Aspects of Lysosomal Storage Diseases. (2024/10/08) ♡
- NT-proBNP Reflects Left Ventricular Hypertrophy Rather than Left Ventricular Dilatation or Systolic Dysfunction in Patients with Fabry Disease. (2024/10/07) ♡
- Comparative pharmacokinetics and pharmacodynamics of two formulations of agalsidase beta (agalsidase Biosidus) and Fabrazyme® by intravenous infusion in healthy male volunteers. (2024/10/07) ♡
- 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. Fabry disease: a rare disorder calling for personalized medicine. (2024/10/01) ♡
- 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. Lysosomal storage disorders - Fabry disease and Gaucher disease. (2024/10/01) ♡
- 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 principles related to neurocutaneous disorders. (2024/10/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Myoepithelial Carcinoma of the External Auditory Canal With Extension Into the Middle Ear and Mastoid. (2024/10/01) ♡
- Classification of Infiltrative Heart Diseases MORAL-STAGE System. (2024/10/01) ♡
- Cardiovascular magnetic resonance insights into anomalies of the mitral valve apparatus in Fabry cardiomyopathy and hypertrophic cardiomyopathy. (2024/09/30) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Fabry Disease in a Female: A Unique Case Highlighting the Variability in Clinical Presentation. (2024/09/28) ♡
- Usefulness of Native T1 in Cardiac Magnetic Resonance Imaging and Echocardiographic Strain Parameters for Detecting Early Cardiac Involvement in Fabry Cardiomyopathy. (2024/09/26) ♡
- In Silico Modeling of Fabry Disease Pathophysiology for the Identification of Early Cellular Damage Biomarker Candidates. (2024/09/25) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Recurrent left ventricular thrombus after the direct surgical thrombectomy in Fabry disease. (2024/09/24) ♡
- Prospective characterization of early symptom onset and progression in young pediatric patients with variants in the G LA gene across 5 years: Longitudinal data from the Fabry MOPPet Study. (2024/09/10) ♡
- Clinical outcomes in elderly patients receiving agalsidase alfa treatment in the Fabry Outcome Survey. (2024/09/01) ♡
- M13 bacteriophage-based high-sensitivity Fabry-Pérot etalon for detecting humidity and volatile organic compounds. (2024/08/26) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Coexistence of Fabry Disease and Membranous Nephropathy: A Case Report. (2024/08/20) ♡
- Plasma and platelet lipidome changes in Fabry disease. (2024/08/15) ♡
- Sphingolipid Metabolism Is Associated with Cardiac Dyssynchrony in Patients with Acute Myocardial Infarction. (2024/08/15) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Effects of switching from agalsidase-α to agalsidase-β on biomarkers, renal and cardiac parameters, and disease severity in fabry disease forming neutralizing antidrug antibodies: a case report. (2024/08/01) ♡
- Dynamics of Leukocyte Telomere Length in Patients with Fabry Disease. (2024/08/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. The Missense Variant in the Signal Peptide of α-GLA Gene, c.13 A/G, Promotes Endoplasmic Reticular Stress and the Related Pathway's Activation. (2024/07/19) ♡
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