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Fabry disease
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Publications and studies (1331)
- MRI-visible perivascular spaces as an imaging biomarker in Fabry disease. (2021/03/01) ♡
- Atrial fibrillation and migraine with aura in young adults with ischemic stroke. (2021/03/01) ♡
- Lysosomal storage disorders: Novel and frequent pathogenic variants in a large cohort of Indian patients of Pompe, Fabry, Gaucher and Hurler disease. (2021/03/01) ♡
- 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. Current concepts on communication between the central nervous system and peripheral immunity via lymphatics: what roles do lymphatics play in brain and spinal cord disease pathogenesis? (2021/03/01) ♡
- Prevalence of Fabry disease in men with tinnitus and sensorineural hearing loss. (2021/03/01) ♡
- 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 classic variant of Fabry disease in a family with the M296I late-onset variant. (2021/02/01) ♡
- A long-term neuropsychological evaluation in Fabry disease. (2021/02/01) ♡
- Effects of agalsidase-β administration on vascular function and blood pressure in familial Anderson-Fabry disease. (2021/02/01) ♡
- 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. Proteomics for the study of new biomarkers in Fabry disease: State of the art. (2021/02/01) ♡
- 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: GLA deletion alters a canonical splice site in a family with neuropsychiatric manifestations. (2021/02/01) ♡
- 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. Pathological entities that may affect the lungs and the myocardium. Evaluation with chest CT and cardiac MR. (2021/02/01) ♡
- 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. [Fabry disease: A review]. (2021/02/01) ♡
- Evidence of evolution towards left midventricular obstruction in severe Anderson-Fabry cardiomyopathy. (2021/02/01) ♡
- 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. Advances in the Management of Small Fiber Neuropathy. (2021/02/01) ♡
- Unexplored regulatory sequences of divergently paired GLA and HNRNPH2 loci pertinent to Fabry disease in human kidney and skin cells: Presence of an active bidirectional promoter. (2021/02/01) ♡
- Independent Registries Are Cost-Effective Tools to Provide Mandatory Postauthorization Surveillance for Orphan Medicinal Products. (2021/02/01) ♡
- Galabiosylceramide is present in human cerebrospinal fluid. (2021/01/15) ♡
- Characteristics of the Electrocardiogram in Japanese Fabry Patients Under Long-Term Enzyme Replacement Therapy. (2021/01/14) ♡
- Computer-assisted retinal vessel diameter evaluation in Fabry disease. (2021/01/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Zebra bodies without Fabry disease or hydroxychloroquine. (2021/01/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Laminated structures in solitary fibrous tumor cells in a patient with Fabry disease. (2021/01/01) ♡
- Affinity purification of human alpha galactosidase utilizing a novel small molecule biomimetic of alpha-D-galactose. (2021/01/01) ♡
- Assessment of plasma lyso-Gb(3) for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease. (2021/01/01) ♡
- Incidental finding of cornea verticillata or lamellar inclusions in kidney biopsy: measurement of lyso-Gb3 in plasma defines between Fabry disease and drug-induced phospholipidosis. (2021/01/01) ♡
- 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. Fabry disease - current data and therapeutic approaches. (2021/01/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Anderson-Fabry disease: No histological signs of pathological accumulation in arterial and venous endothelium during pegunigalsidase alfa therapy. (2021/01/01) ♡
- Genetically Modified Cell Transplantation Through Macroencapsulated Spheroids with Scaffolds to Treat Fabry Disease. (2021/01/01) ♡
- Tissue Characterization in Cardiology: Moving Beyond Function. (2021/01/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged 12 to <18 Years) (2021-11-30) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Fabry Outcome Survey (FOS) (2021-11-16) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Characterisation of Heart Involvement in Fabry Disease With T1 Mapping (2021-10-20) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Impact of MIgalastat TheRApy on CaRdiac Function in patiEnts With Fabry's Cardiomyopathy (MIRACRE-Fabry Trial) (2021-10-14) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan (2021-10-07) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Fabry Aim Children Early (ACE) Project (2021-09-30) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Epidemiological Study of Fabry Disease Screening in Chronic Kidney Disease Patients (2021-09-24) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Replagal Enzyme Replacement Therapy for Children With Fabry Disease (2021-07-30) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. This Study is Designed to Evaluate PD/PK and Safety of Replagal Manufactured by Two Different Processes. (2021-07-19) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Impact of Agalsidase Alfa Therapy on Cardiac funcTION in Patients With Fabry's Cardiomyopathy (2021-06-24) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Impact of Enzyme Replacement Therapy on Cardiac Function in Patients With Fabry's Cardiomyopathy (RECAFTURE Trial) (2021-06-24) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Safety Study of Replagal® Therapy in Children With Fabry Disease (2021-06-09) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Safety and Efficacy Study of Several Replagal Dosing Regimens on Cardiac Function in Adults With Fabry Disease (2021-06-09) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Multicenter Open-Label Treatment Protocol to Observe the Safety of Replagal (Agalsidase Alfa) Enzyme Replacement Therapy in Canadian Patients With Fabry Disease (2021-06-08) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Extension Study of TKT028 Evaluating Safety and Clinical Outcomes of Replagal® in Adult Patients With Fabry Disease (2021-06-08) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Complement Activation in the Lysosomal Storage Disorders (2021-06-07) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Sophisticated Assessment of Disease Burden in Patients With Fabry Disease (2021-06-03) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Treatment Protocol of Replagal for Patients With Fabry Disease (2021-05-24) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Substudy (NCT04456582): Noninvasive Assessment of Myocardial Stiffness by 2D-SWE Ultrasound Technique (Two-dimensional Shear Wave Elastography) in Patients With Amyloidosis and Fabry Disease. (2021-05-20) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Early Detection and Follow-Up of Patients With Fabry's Disease (2021-04-19) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Stroke in Young Fabry Patients (sifap2): Characterization of the Stroke Rehabilitation (2021-04-12) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Fabry and Cardiomyopathy (FaCard) (2021-04-09) ♡
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