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Fabry disease
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Publications and studies (1331)
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Novel combination of FLNC (c.5707G>A; p. Glu1903Lys) and BAG3 (c.610G>A; p.Gly204Arg) genetic variant expressing restrictive cardiomyopathy phenotype in an adolescent girl. (2022/01/01) ♡
- [Pulmonary storage]. (2022/01/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Prevalence and Characteristics of Fabry Disease (FD) in Patients With Stroke or Small Fiber Neuropathy (2022-09-07) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. MigALastat Therapy Adherence Among FABRY Patients: A Prospective Multicentral Observational Study (2022-07-11) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Evaluation of HEArt invoLvement in Patients With FABRY Disease (2022-07-07) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Pre-Clinical White Matter Changes and Associated Connectivity Effects in Fabry Disease (2022-05-26) ♡
- Safety of a protocol for reduction of agalsidase beta infusion time in Fabry disease: An Italian multi-centre study. (2021/12/23) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Progress in elucidating the relationship between Helicobacter pylori infection and intestinal diseases. (2021/12/21) ♡
- A new approach to identifying patients with elevated risk for Fabry disease using a machine learning algorithm. (2021/12/20) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Nationwide screening for Fabry disease in unselected stroke patients. (2021/12/14) ♡
- Multidisciplinary approach to screening and management of children with Fabry disease: practice at a Tertiary Children's Hospital in China. (2021/12/14) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Migalastat Treatment in a Kidney-Transplanted Patient with Fabry Disease and N215S Mutation: The First Case Report. (2021/12/14) ♡
- Prevalence of lysosomal storage disorders in Australia from 2009 to 2020. (2021/12/12) ♡
- Circulating miR-184 is a potential predictive biomarker of cardiac damage in Anderson-Fabry disease. (2021/12/11) ♡
- The New Pharmacological Chaperones PBXs Increase α-Galactosidase A Activity in Fabry Disease Cellular Models. (2021/12/10) ♡
- Variable expression of eighteen common housekeeping genes in human non-cancerous kidney biopsies. (2021/12/09) ♡
- A Rapid and Simple UHPLC-MS/MS Method for Quantification of Plasma Globotriaosylsphingosine (lyso-Gb3). (2021/12/03) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Late-onset Fabry disease revealed by ventricular tachycardia: A case report. (2021/12/03) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. The Safety of Agalsidase Alfa Enzyme Replacement Therapy in Canadian Patients with Fabry Disease Following Implementation of a Bioreactor Process. (2021/12/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Severe manifestations and treatment of COVID-19 in a transplanted patient with Fabry disease. (2021/12/01) ♡
- Clinical and genetic spectrum in Chinese families with Fabry disease: a single-centre case series. (2021/12/01) ♡
- 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. First manifestation of Fabry's disease by psychotic episode associated with thalamic ischemic stroke - case report and review of literature. (2021/12/01) ♡
- Fabry nephropathy before and after enzyme replacement therapy: important role of renal biopsy in patients with Fabry disease. (2021/12/01) ♡
- Small Fiber Neuropathy Incidence, Prevalence, Longitudinal Impairments, and Disability. (2021/11/30) ♡
- Endothelial Dysfunction in Fabry Disease Is Related to Glycocalyx Degradation. (2021/11/30) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Humoral Immune Response to SARS-CoV-2 Vaccination after a Booster Vaccine Dose in Two Kidney Transplant Recipients with Fabry Disease and Variable Secondary Immunosuppressive Regimens. (2021/11/30) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Fabry Nephropathy in a Young Female Patient Presenting with Only Urinary Mulberry Bodies Treated with Chaperone Therapy. (2021/11/29) ♡
- LC-MS lipidomics of renal biopsies for the diagnosis of Fabry disease. (2021/11/26) ♡
- 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. Monogenic Causes of Strokes. (2021/11/23) ♡
- 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. Cutaneous pain in disorders affecting peripheral nerves. (2021/11/20) ♡
- Retinal vessel tortuosity as a prognostic marker for disease severity in Fabry disease. (2021/11/20) ♡
- Fabry Disease Patient-Reported Outcome (FD-PRO) demonstrates robust measurement properties for assessing symptom severity in Fabry disease. (2021/11/19) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Detection of single nucleotide and copy number variants in the Fabry disease-associated GLA gene using nanopore sequencing. (2021/11/16) ♡
- Erratum to: Screening of Fabry disease in patients with chronic kidney disease in Japan. (2021/11/09) ♡
- 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. Prevalence of Fabry Disease in Patients With Cryptogenic Strokes: A Systematic Review. (2021/11/08) ♡
- Single-Cell RNA Sequencing of Urinary Cells Reveals Distinct Cellular Diversity in COVID-19-Associated AKI. (2021/11/05) ♡
- Evaluation of the reasons for the microvascular changes in patients with Fabry disease using optic coherence tomography angiography. (2021/11/01) ♡
- The meningeal lymphatics: regulators of Aβ immunotherapy? (2021/11/01) ♡
- Comparative analysis of phasic left atrial strain and left ventricular posterolateral strain pattern to discriminate Fabry cardiomyopathy from other forms of left ventricular hypertrophy. (2021/11/01) ♡
- 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. Dermatologic manifestations of pediatric cardiovascular diseases: Skin as a reflection of the heart. (2021/11/01) ♡
- 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. Mechanisms of Neutralizing Anti-drug Antibody Formation and Clinical Relevance on Therapeutic Efficacy of Enzyme Replacement Therapies in Fabry Disease. (2021/11/01) ♡
- Self-reported asthma prevalence and management in adults in France in 2018: ASTHMAPOP survey. (2021/11/01) ♡
- Serum neurofilament light chain is not a useful biomarker of central nervous system involvement in women with Fabry disease. (2021/11/01) ♡
- Predictors of outcome in a Spanish cohort of patients with Fabry disease on enzyme replacement therapy. (2021/11/01) ♡
- Prevalence of cerebral small vessel disease in a Fabry disease cohort. (2021/10/21) ♡
- α-Galactosidase a Deficiency in Fabry Disease Leads to Extensive Dysregulated Cellular Signaling Pathways in Human Podocytes. (2021/10/20) ♡
- Survey about the Quality of Life of Italian Patients with Fabry Disease. (2021/10/15) ♡
- The impact of demographic and clinical characteristics on the trajectories of health-related quality of life among patients with Fabry disease. (2021/10/12) ♡
- 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: An Atypical Presentation. (2021/10/12) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Pericardial effusion in the course of Fabry disease cardiomyopathy: a case report. (2021/10/07) ♡
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