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Fabry disease
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Publications and studies (1331)
- Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype. (2020/02/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A case of female Fabry disease revealed by renal biopsy. (2020/02/01) ♡
- Translational readthrough of GLA nonsense mutations suggests dominant-negative effects exerted by the interaction of wild-type and missense variants. (2020/02/01) ♡
- 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. Pooled summary of native T1 value and extracellular volume with MOLLI variant sequences in normal subjects and patients with cardiovascular disease. (2020/02/01) ♡
- Plasma adiponectin is a potential biomarker for organ involvement in male Fabry disease patients. (2020/02/01) ♡
- Usefulness of lyso-globotriaosylsphingosine in dried blood spots in the differential diagnosis between multiple sclerosis and Anderson-Fabry's disease. (2020/02/01) ♡
- Pathogenesis of Fabry nephropathy: The pathways leading to fibrosis. (2020/02/01) ♡
- α-Galactosidase A/lysoGb3 ratio as a potential marker for Fabry disease in females. (2020/02/01) ♡
- Globotriaosylceramide-induced reduction of K(Ca)1.1 channel activity and activation of the Notch1 signaling pathway in skin fibroblasts of male Fabry patients with pain. (2020/02/01) ♡
- High-risk screening for Fabry disease in a Canadian cohort of chronic kidney disease patients. (2020/02/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. FAbry STabilization indEX (FASTEX): Clinical evaluation of disease progression in Fabry patients. (2020/02/01) ♡
- 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. Efficacy and safety of migalastat in a Japanese population: a subgroup analysis of the ATTRACT study. (2020/02/01) ♡
- 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 caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males. (2020/02/01) ♡
- Enzyme replacement therapy in Fabry disease in Poland: a position statement. (2020/01/31) ♡
- Prevalence of Fabry disease in dialysis patients: Western Australia Fabry disease screening study - the FoRWARD study. (2020/01/13) ♡
- Aging in Fabry Disease: Role of Telomere Length, Telomerase Activity, and Kidney Disease. (2020/01/01) ♡
- 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. Progress in the understanding and treatment of Fabry disease. (2020/01/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Fabry Disease: A New Model of Premature Ageing? (2020/01/01) ♡
- Clinical findings of gadolinium-enhanced cardiac magnetic resonance in Fabry patients. (2020/01/01) ♡
- The clinical utility of total concentration of urinary globotriaosylsphingosine plus its analogues in the diagnosis of Fabry disease. (2020/01/01) ♡
- Left Ventricular Hypertrophy and Late Gadolinium Enhancement at Cardiac MRI Are Associated with Adverse Cardiac Events in Fabry Disease. (2020/01/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Grading Cardiac Risk in Fabry Disease: Is MRI the Answer? (2020/01/01) ♡
- Functional Characterization and Pharmacological Evaluation of a Novel GLA Missense Mutation Found in a Severely Affected Fabry Disease Family. (2020/01/01) ♡
- 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. Design and optimization strategies for the development of new drugs that treat chronic kidney disease. (2020/01/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Generation of a GLA knock-out human-induced pluripotent stem cell line, KSBCi002-A-1, using CRISPR/Cas9. (2020/01/01) ♡
- Rapid, proteomic urine assay for monitoring progressive organ disease in Fabry disease. (2020/01/01) ♡
- Cell Transplantation Combined with Recombinant Collagen Peptides for the Treatment of Fabry Disease. (2020/01/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Open-Label Extension Study of the Long-Term Effects of Migalastat HCL in Patients With Fabry Disease (2020-12-21) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Therapeutic Exercise to Treat Neuropathic Pain (2020-12-16) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study of Renal Function in Treatment-naïve, Young Male Patients With Fabry Disease (2020-12-16) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Evaluation of Phenotypic Variability in Fabry Disease (2020-12-03) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Screening of Fabry Disease in Patients With GI Symptoms (2020-02-06) ♡
- Unique molecular signature in mucolipidosis type IV microglia. (2019/12/28) ♡
- Retinal hyperreflective foci in Fabry disease. (2019/12/26) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Hydroxychloroquine-induced renal phospholipidosis resembling Fabry disease in undifferentiated connective tissue disease: A case report. (2019/12/26) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Pregnancy Outcome after Exposure to Migalastat for Fabry Disease: A Clinical Report. (2019/12/21) ♡
- 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. Effectiveness of immunosuppressive therapy for nephrotic syndrome in a patient with late-onset Fabry disease: a case report and literature review. (2019/12/17) ♡
- Significant hearing loss in Fabry disease: Study of the Danish nationwide cohort prior to treatment. (2019/12/06) ♡
- 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 and Investigational Therapeutics for Fabry Disease. (2019/12/06) ♡
- Treatment needs and expectations for Fabry disease in France: development of a new Patient Needs Questionnaire. (2019/12/04) ♡
- Depression, sleep disturbances, pain, disability and quality of life in Brazilian Fabry disease patients. (2019/12/02) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study of indications for cardiac device implantation and utilisation in Fabry cardiomyopathy. (2019/12/01) ♡
- Potential prognostic implications of myocardial thallium-201 and iodine-123-beta-methylpentadecanoic acid dual scintigraphy in patients with Anderson-Fabry disease. (2019/12/01) ♡
- Heartbeat: the potential power of naps for cardiovascular health. (2019/12/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Cardiovascular Magnetic Resonance to Guide and Monitor the Myocardial Response to Treatment. (2019/12/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Myocardial Storage, Inflammation, and Cardiac Phenotype in Fabry Disease After One Year of Enzyme Replacement Therapy. (2019/12/01) ♡
- Treatment guidelineiAn official agreement between doctors about how this disease should be treated. This is not a single study but the conclusion of an entire medical field. Guidelines for Cardiovascular Magnetic Resonance Imaging from the Korean Society of Cardiovascular Imaging-Part 3: Perfusion, Delayed Enhancement, and T1- and T2 Mapping. (2019/12/01) ♡
- 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. Advances in Sphingolipidoses: CRISPR-Cas9 Editing as an Option for Modelling and Therapy. (2019/11/24) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. IgG4-related disease with possible myocardial involvement. (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. Renal globotriaosylceramide deposits for Fabry disease linked to uncertain pathogenicity gene variant c.352C>T/p.Arg118Cys: A family study. (2019/11/01) ♡
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