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Fabry disease

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Search Period All yearsLast 12 monthsLast 5 years Topic All topicsGeneralNutrition and dietAlternative treatment methods Type of research Any type of researchHighest evidence only (55)Meta-analysis (9)Treatment guideline (2)Phase 3 study (19)Systematic review (19)Randomized trial (6)Clinical trial (301)Review article (188)Early study (phase 1 or 2) (4)Case report (159)Laboratory or animal study (24)Commentary or editorial (52)Retracted publication (2) Only studies currently seeking participants (25)

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Publications and studies (1331)

• Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease? (2018/11/23) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. New insights from the application of the FAbry STabilization indEX in a large population of Fabry cases. (2018/11/14) ♡
• Elevated Inflammatory Plasma Biomarkers in Patients With Fabry Disease: A Critical Link to Heart Failure With Preserved Ejection Fraction. (2018/11/06) ♡
• 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. Oxidative Stress and Cardiovascular-Renal Damage in Fabry Disease: Is There Room for a Pathophysiological Involvement? (2018/11/02) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. The healthcare burden of bradyarrhythmias and their impact on the outcomes of 11 553 lipidoses-related hospitalizations: A nationwide inpatient contemplation. (2018/11/01) ♡
• One-step synthesis of carbon-13-labeled globotriaosylsphingosine (lyso-Gb3), an internal standard for biomarker analysis of Fabry disease. (2018/11/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Dorsal root ganglia in vivo morphometry and perfusion in female patients with Fabry disease. (2018/11/01) ♡
• 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. Development and clinical consequences of white matter lesions in Fabry disease: a systematic review. (2018/11/01) ♡
• Simplified apical four-chamber view evaluation of relative apical sparing of longitudinal strain in diagnosing AL amyloid cardiomyopathy. (2018/11/01) ♡
• Comparison of echocardiographic parameters in Fabry cardiomyopathy and light-chain cardiac amyloidosis. (2018/11/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Multiple sclerosis and fabry Disease, two sides of the coin? The case of an Italian family. (2018/11/01) ♡
• Absence of infratentorial lesions in Fabry disease contributes to differential diagnosis with multiple sclerosis. (2018/11/01) ♡
• [Dermal Clues to Systemic Diseases]. (2018/11/01) ♡
• [The basics of lysosomal storage diseases]. (2018/11/01) ♡
• [Fabry disease - the profile of an orphan disease]. (2018/11/01) ♡
• Fabry disease in a Japanese population-molecular and biochemical characteristics. (2018/10/26) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Characterization of small fiber pathology in a mouse model of Fabry disease. (2018/10/17) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. FDA approves Galafold, a triumph for Amicus. (2018/10/11) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Enzyme replacement therapy and white matter hyperintensity progression in Fabry disease. (2018/10/09) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Podocyturia: why it may have added value in rare diseases. (2018/10/05) ♡
• 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 p.Arg118Cys Variant in the GLA Gene Does Not Cause Fabry Disease. More Evidence. (2018/10/01) ♡
• 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. Small fiber neuropathy: Diagnosis, causes, and treatment. (2018/10/01) ♡
• 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. [Inherited heart diseases and storage diseases with cardiac involvement]. (2018/10/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Electron microscopy of urinary sediments in Fabry disease. (2018/10/01) ♡
• 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 diseases. (2018/10/01) ♡
• Evaluating enzyme replacement therapies for Anderson-Fabry disease: commentary on a recent report. (2018/10/01) ♡
• Extensive Extrapulvinar Calcification in Fabry Disease. (2018/10/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Neutralizing anti-drug antibodies in Fabry disease have no obvious clinical impact? (2018/09/29) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Fabry disease in Poland. (2018/09/28) ♡
• Oxidative stress and the altered reaction to it in Fabry disease: A possible target for cardiovascular-renal remodeling? (2018/09/27) ♡
• 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 potential pitfall A family with a novel intronic mutation. (2018/09/08) ♡
• Immune-Mediated Myocarditis in Fabry Disease Cardiomyopathy. (2018/09/04) ♡
• 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. Effects of Enzyme Replacement Therapy and Antidrug Antibodies in Patients with Fabry Disease. (2018/09/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Hydroxychloroquine-induced mimic of renal Fabry disease. (2018/09/01) ♡
• Cardiopulmonary fitness assessment on maximal and submaximal exercise testing in patients with Fabry disease. (2018/09/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. [A case of Anderson-Fabry disease: a multidisciplinary approach for diagnosis and follow up]. (2018/09/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. [Neuropathy and Fabry's disease. Report of five cases]. (2018/09/01) ♡
• Characteristics of patients with severe, uncontrolled, eosinophilic asthma enrolled in a French cohort. (2018/08/31) ♡
• Reduced Intracranial Volume in Fabry Disease: Evidence of Abnormal Neurodevelopment? (2018/08/17) ♡
• Corneal confocal microscopy detects corneal nerve damage and increased dendritic cells in Fabry disease. (2018/08/16) ♡
• Characterization of vertigo and hearing loss in patients with Fabry disease. (2018/08/15) ♡
• Serum Biomarkers of Endothelial Dysfunction in Fabry Associated Cardiomyopathy. (2018/08/15) ♡
• Plasma lyso-Gb3: a biomarker for monitoring fabry patients during enzyme replacement therapy. (2018/08/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Generation of the human induced pluripotent stem cell line (UKWNLi001-A) from skin fibroblasts of a woman with Fabry disease carrying the X-chromosomal heterozygous c.708 G > C (W236C) missense mutation in exon 5 of the alpha-galactosidase-A gene. (2018/08/01) ♡
• Value of cardiac biomarker measurement in the differential diagnosis of infiltrative cardiomyopathy patients with preserved left ventricular systolic function. (2018/08/01) ♡
• Fabry Disease Diagnosis in a Young Stroke Patient: A Case Report. (2018/07/17) ♡
• Proteinuria in a male adolescent with hearing loss: Answers. (2018/07/01) ♡
• Low frequency of Fabry disease in patients with common heart disease. (2018/07/01) ♡
• 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. European expert consensus statement on therapeutic goals in Fabry disease. (2018/07/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. [Acquired facial angiokeratoma]. (2018/06/19) ♡

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