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Fabry disease
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Publications (1077)
- 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) ♡
- 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) ♡
- 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) ♡
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