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Fabry disease
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Publications and studies (1331)
- 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 novel association between angiokeratoma corporis diffusum and acid sphingomyelinase deficiency. (2019/11/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. [A breast cancer case in the only Lebanese family with Fabry disease]. (2019/11/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Severe Late-Onset Fabry Cardiomyopathy Unmasked by a Multimodality Imaging Approach. (2019/11/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Echocardiographic features of Fabry cardiomyopathy-Comparison with hypertrophy-matched sarcomeric hypertrophic cardiomyopathy. (2019/11/01) ♡
- 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. Multimodality Imaging Assessment of Fabry Disease. (2019/11/01) ♡
- Direct Correlation between Age at Diagnosis and Severity of Nephropathy in Fabry Disease Patients. (2019/11/01) ♡
- 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. Deposit Diseases as Differential Diagnosis of Left Ventricular Hypertrophy in Patients with Heart Failure and Preserved Systolic Function. (2019/11/01) ♡
- The Prevalence of Fabry Disease Among Turkish Patients with Non-Obstructive Hypertrophic Cardiomyopathy: Insights from a Screening Study. (2019/10/28) ♡
- Cardio- Renal Outcomes With Long- Term Agalsidase Alfa Enzyme Replacement Therapy: A 10- Year Fabry Outcome Survey (FOS) Analysis. (2019/10/25) ♡
- Circulating microRNAs in Fabry Disease. (2019/10/24) ♡
- Comment: Why are females with Fabry disease affected? (2019/10/22) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Ventricular fibrillation associated with vasospastic angina pectoris in Fabry disease: a case report. (2019/10/21) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Early initiation of enzyme replacement therapy in classical Fabry disease normalizes biomarkers in clinically asymptomatic pediatric patients. (2019/10/19) ♡
- Global glycosphingolipid analysis in urine and plasma of female Fabry disease patients. (2019/10/01) ♡
- Symptoms and Quality of Life in Patients with Fabry Disease: Results from an International Patient Survey. (2019/10/01) ♡
- Scientific Advances in and Clinical Approaches to Small-Fiber Polyneuropathy: A Review. (2019/10/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Coexistence of Fabry disease with IgM nephropathy: A case report. (2019/10/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Left ventricular noncompaction and Fabry disease: An unlikely association. (2019/10/01) ♡
- Screening for Fabry disease in patients with left ventricular noncompaction. (2019/10/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Novel GLA Mutation Promotes Intron Inclusion Leading to Fabry Disease. (2019/09/27) ♡
- Inhibition of Mitochondrial Complex I Impairs Release of α-Galactosidase by Jurkat Cells. (2019/09/05) ♡
- 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 Factors of Cerebral Small Vessel Disease and Their Potential Clinical Outcome. (2019/09/03) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Strong increase of leukocyte alpha-galactosidase A activity in two male patients with Fabry disease following oral chaperone therapy. (2019/09/01) ♡
- 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. Rare presentation and wide intrafamilial variability of Fabry disease: A case report and review of the literature. (2019/09/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Intravenous Thrombolysis For Acute Ischemic Stroke in Fabry Disease. (2019/09/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Burning Feet, Dilated Heart and Failed Kidneys. (2019/09/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Ocular findings in Fabry disease in Colombian patients. (2019/09/01) ♡
- Introduction to the special issue: "Focus on pediatric nephrology". (2019/09/01) ♡
- Renal involvement in paediatric Fabry disease. (2019/09/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. RECURRENT ATYPICAL OPTIC NEURITIS AS THE LEADING SIGN OF FABRY DISEASE. (2019/09/01) ♡
- Lyso-Gb3 modulates the gut microbiota and decreases butyrate production. (2019/08/19) ♡
- The clinical profiles of female patients with Fabry disease in Latin America: A Fabry Registry analysis of natural history data from 169 patients based on enzyme replacement therapy status. (2019/08/05) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Fabry Disease: Cardiomyopathy Staging. (2019/08/01) ♡
- Otological aspects of Fabry disease in patients with normal hearing. (2019/08/01) ♡
- Response to Gurevich and colleagues: The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: a systematic literature review by a European panel of experts. (2019/07/22) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Demographic and Clinical Characteristics of the Full 2015-2018 Cohort of Romanian Fabry Disease Patients. (2019/07/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Fabry disease and immunoglobulin A nephropathy presenting with Alport syndrome-like findings: A case report. (2019/07/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A Case of Fabry Disease Presenting with Young Stroke and Fever. (2019/06/15) ♡
- 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. Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial. (2019/05/01) ♡
- Fabry-Pérot optical sensor and portable detector for monitoring high-resolution ocular hemodynamics. (2019/03/15) ♡
- The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants. (2019/03/01) ♡
- 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. Genomic screening of Fabry disease in young stroke patients: the Taiwan experience and a review of the literature. (2019/03/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Podocyturia in paediatric patients with Fabry disease. (2019/03/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Screening for Fabry disease and Hereditary ATTR amyloidosis in idiopathic small-fiber and mixed neuropathy. (2019/03/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Global longitudinal strain, myocardial storage and hypertrophy in Fabry disease. (2019/03/01) ♡
- Systematic reviewiAll research on one question is searched according to fixed rules and compared side by side, so that no studies with poor outcomes are missed. The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease - A systematic literature review by a European panel of experts. (2019/03/01) ♡
- High incidence of co-existing factors significantly modifying the phenotype in patients with Fabry disease. (2019/03/01) ♡
- 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 affecting the heart: a review. (2019/03/01) ♡
- Systematic reviewiAll research on one question is searched according to fixed rules and compared side by side, so that no studies with poor outcomes are missed. The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease - A systematic literature review by a European panel of experts. (2019/03/01) ♡
- Clinical Diversity in Patients with Anderson-fabry Disease with the R301Q Mutation. (2019/02/15) ♡
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