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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)

• Antibodies against recombinant alpha-galactosidase A in Fabry disease: Subclass analysis and impact on response to treatment. (2019/02/01) ♡
• Cross-Sectional Study on MRI Restaging After Chemoradiotherapy and Interval to Surgery in Rectal Cancer: Influence on Short- and Long-Term Outcomes. (2019/02/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Early detection of organ involvement in Fabry disease by biomarker assessment in conjunction with LGE cardiac MRI: results from the SOPHIA study. (2019/02/01) ♡
• Will the FAbry STabilization indEX make its way to everyday clinical practice? (2019/02/01) ♡
• Early decrease in the podocalyxin to synaptopodin ratio in urinary Fabry podocytes. (2019/02/01) ♡
• 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. Migalastat for Fabry disease. (2019/02/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Long-Term Effects of Enzyme Replacement Therapy for Anderson-Fabry Disease. (2019/01/25) ♡
• Unexpectedly High Prevalence of Coronary Spastic Angina in Patients With Anderson-Fabry Disease. (2019/01/25) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Unexpected, But Reasonable Association Between Anderson-Fabry Disease and Coronary Vasospasm. (2019/01/25) ♡
• Randomized researchiParticipants were divided into groups by lottery and compared with each other. This reduces the chance that a difference is due to something other than the treatment. Safety and efficacy of helminth treatment in relapsing-remitting multiple sclerosis: Results of the HINT 2 clinical trial. (2019/01/01) ♡
• Enzyme Replacement Therapy During Pregnancy in Fabry Patients : Review of Published Cases of Live Births and a New Case of a Severely Affected Female with Fabry Disease and Pre-eclampsia Complicating Pregnancy. (2019/01/01) ♡
• Enzyme Replacement Therapy in Pregnant Women with Fabry Disease: A Case Series. (2019/01/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Glomerular Hyperfiltration: An Early Marker of Nephropathy in Fabry Disease. (2019/01/01) ♡
• α-galactosidase A deficiency promotes von Willebrand factor secretion in models of Fabry disease. (2019/01/01) ♡
• Elevated Lyso-Gb3 Suggests the R118C GLA Mutation Is a Pathological Fabry Variant. (2019/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Acute Decompensated Heart Failure After Initiation of Amiodarone in a Patient With Anderson-Fabry Disease. (2019/01/01) ♡
• 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. Computational and modeling approaches to understand the impact of the Fabry's disease causing mutation (D92Y) on the interaction with pharmacological chaperone 1-deoxygalactonojirimycin (DGJ). (2019/01/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Glomerular Hyperfiltration or Microalbuminuria as an Early Marker of Fabry Nephropathy. (2019/01/01) ♡
• 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. Production of Therapeutic Enzymes by Lentivirus Transgenesis. (2019/01/01) ♡
• 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. Early Biomarkers of Fabry Nephropathy: A Review of the Literature. (2019/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. p.G360R Is a Pathogenic GLA Gene Mutation Responsible for a Classic Phenotype of Fabry Disease. (2019/01/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-naïve Adult Male Patients With Fabry Disease (2019-12-17) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Heidelberg In Vivo Confocal Microscopy to Evaluate the Ocular Surface Disorders of Healthy and Diseased Individuals (2019-07-24) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Safety and Efficacy of Gabapentin for Neuropathic Pain in Fabry Disease (2019-05-29) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Fabry's Disease and Pregnancy (PREFAB) (2019-02-15) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Screening of Lysosomal Storage Disorders Diseases in Minority Groups (2019-01-22) ♡
• Cornea verticillata in Fabry disease. (2018/12/30) ♡
• Identification of a novel loss-of-function mutation of the GLA gene in a Chinese Han family with Fabry disease. (2018/12/27) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Ventricular tachycardia: a presentation of Fabry disease case report. (2018/12/22) ♡
• Performance of the Four-Plex Tandem Mass Spectrometry Lysosomal Storage Disease Newborn Screening Test: The Necessity of Adding a 2nd Tier Test for Pompe Disease. (2018/12/18) ♡
• Brain MRI findings in children and adolescents with Fabry disease. (2018/12/15) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Progressive cardiac involvement in a compound heterozygote Fabry patient: a case report. (2018/12/07) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Reader response: Increased resting cerebral blood flow in adult Fabry disease: MRI arterial spin labeling study. (2018/12/04) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Author response: Increased resting cerebral blood flow in adult Fabry disease: MRI arterial spin labeling study. (2018/12/04) ♡
• Hyperspectral analysis applied to micro-Brillouin maps of amyloid-beta plaques in Alzheimer's disease brains. (2018/12/03) ♡
• Screening for Fabry Disease in Japanese Patients with Young-Onset Stroke by Measuring α-Galactosidase A and Globotriaosylsphingosine. (2018/12/01) ♡
• 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. Multimodality imaging in Fabry cardiomyopathy: from early diagnosis to therapeutic targets. (2018/12/01) ♡
• Scope and Burden of Non-Standard of Care Hematopoietic Stem Cell Transplantation in Pediatric Leukodystrophy Patients. (2018/12/01) ♡
• Dose-Dependent Effect of Enzyme Replacement Therapy on Neutralizing Antidrug Antibody Titers and Clinical Outcome in Patients with Fabry Disease. (2018/12/01) ♡
• 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. Neuroimaging in Fabry disease: current knowledge and future directions. (2018/12/01) ♡
• Dissociation of globotriaosylceramide and impaired endothelial function in α-galactosidase-A deficient EA.hy926 cells. (2018/12/01) ♡
• 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. Hot topics in Fabry disease. (2018/12/01) ♡
• 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. Lysosomal storage disease overview. (2018/12/01) ♡
• 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 OR FABRY DISEASE - PROS AND CONS. (2018/12/01) ♡
• 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 manifestations in a patient with de novo Fabry disease. (2018/12/01) ♡
• Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase. (2018/11/30) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. New Fabry disease mutation confirms cardiomyopathy aetiology: a case report. (2018/11/29) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Prognostic Significance of Cardiac Magnetic Resonance Imaging Late Gadolinium Enhancement in Fabry Disease. (2018/11/27) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Ion channels and neuropathic pain. (2018/11/26) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Correlations Between Serum Cholesterol and Vascular Lesions in Fabry Disease Patients. (2018/11/24) ♡

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