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Fabry disease
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Publications and studies (1330)
- 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: about an uncommon case]. (2017/12/05) ♡
- Fluorescent probes for selective protein labeling in lysosomes: a case of α-galactosidase A. (2017/12/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. The influence of hospital volume on long-term oncological outcome after rectal cancer surgery. (2017/12/01) ♡
- The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease. (2017/12/01) ♡
- Redefining the Pulvinar Sign in Fabry Disease. (2017/12/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Chloroquine Toxicity Misdiagnosed as Fabry Disease Associated with Systemic Lupus Erythematosus and Hashimoto Thyroiditis. (2017/12/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Detection of Urinary Mulberry Bodies Leads to Diagnosis of Fabry Cardiomyopathy: A Simple Clue in the Urine Sediment. (2017/12/01) ♡
- 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. Translational Aspects of Sphingolipid Metabolism in Renal Disorders. (2017/11/25) ♡
- Cardiac and renal dysfunction is associated with progressive hearing loss in patients with Fabry disease. (2017/11/21) ♡
- Genetic variants associated with Fabry disease progression despite enzyme replacement therapy. (2017/11/18) ♡
- Ascending aortic remodelling in Fabry disease after long-term enzyme replacement therapy. (2017/11/09) ♡
- Parkinson's disease prevalence in Fabry disease: A survey study. (2017/11/09) ♡
- Long-term outcomes with agalsidase alfa enzyme replacement therapy: Analysis using deconstructed composite events. (2017/11/09) ♡
- Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy. (2017/11/01) ♡
- 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. The role of epigenetics in lysosomal storage disorders: Uncharted territory. (2017/11/01) ♡
- 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 hypertrophic cardiomyopathy in a patient with atypical Anderson-Fabry disease. (2017/11/01) ♡
- 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. Contribution of inflammatory pathways to Fabry disease pathogenesis. (2017/11/01) ♡
- Enzyme replacement therapy in a patient of heterozygous Fabry disease: clinical and pathological evaluations by repeat kidney biopsy and a successful pregnancy. (2017/11/01) ♡
- 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. Living with a rare disorder: a systematic review of the qualitative literature. (2017/11/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Letter re: Alterations of functional connectivity of the motor cortex in Fabry disease: An RS-fMRI study. (2017/10/24) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Author response: Alterations of functional connectivity of the motor cortex in Fabry disease: An RS-fMRI study. (2017/10/24) ♡
- Clinical recommendations for cardiovascular magnetic resonance mapping of T1, T2, T2* and extracellular volume: A consensus statement by the Society for Cardiovascular Magnetic Resonance (SCMR) endorsed by the European Association for Cardiovascular Imaging (EACVI). (2017/10/09) ♡
- Fabry disease due to D313Y and novel GLA mutations. (2017/10/06) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Intraoperative Diagnosis of Anderson-Fabry Disease in Patients With Obstructive Hypertrophic Cardiomyopathy Undergoing Surgical Myectomy. (2017/10/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Incorporating Genetic Testing Into Cardiovascular Practice. (2017/10/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Fabry disease in children: a federal screening programme in Russia. (2017/10/01) ♡
- Rare diseases, rare presentations: recognizing atypical inherited kidney disease phenotypes in the age of genomics. (2017/10/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease. (2017/10/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Clinical Characteristics of the GLA N215S Variant and Implications for the Diagnosis and Management of Nonclassic Fabry Disease. (2017/10/01) ♡
- Measurement of myocardial native T1 in cardiovascular diseases and norm in 1291 subjects. (2017/09/28) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A prospective, observational study of patients with uncommon distal symmetric painful small-fiber neuropathy. (2017/09/28) ♡
- E-Learning for Rare Diseases: An Example Using Fabry Disease. (2017/09/24) ♡
- Human dorsal root ganglion in vivo morphometry and perfusion in Fabry painful neuropathy. (2017/09/19) ♡
- 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. Self-monitoring of blood pressure in hypertension: A systematic review and individual patient data meta-analysis. (2017/09/19) ♡
- Fabry disease and incidence of cancer. (2017/09/06) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Temporal Relation Between Myocardial Fibrosis and Heart Failure With Preserved Ejection Fraction: Association With Baseline Disease Severity and Subsequent Outcome. (2017/09/01) ♡
- 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. Ultrastructural aspects of vacuolar degeneration of cardiomyocytes in human endomyocardial biopsies. (2017/09/01) ♡
- High yield process for the production of active human α-galactosidase a in CHO-K1 cells through lentivirus transgenesis. (2017/09/01) ♡
- A simple method for quantification of plasma globotriaosylsphingosine: Utility for Fabry disease. (2017/09/01) ♡
- 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. Recent advances and novel treatments for sphingolipidoses. (2017/09/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. [Fabry disease: An overlooked diagnosis in adult cardiac patients]. (2017/09/01) ♡
- The Ability of Nitric Oxide to Lower Intraocular Pressure Is Dependent on Guanylyl Cyclase. (2017/09/01) ♡
- Patterns of CMR measured longitudinal strain and its association with late gadolinium enhancement in patients with cardiac amyloidosis and its mimics. (2017/08/07) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Fabry Disease in Southern Sardinia: epidemiological results from screening in an extensive area. (2017/08/01) ♡
- Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors. (2017/08/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Previously Unreported in Women Galactosidase Alpha Pro409Ser Variant Is Associated With Fabry Disease. (2017/08/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Neglected visual function impairment associated with cornea verticillata due to Fabry disease. (2017/08/01) ♡
- Fabry Disease in Families With Hypertrophic Cardiomyopathy: Clinical Manifestations in the Classic and Later-Onset Phenotypes. (2017/08/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Fabry Disease: A Rare Condition Emerging From the Darkness. (2017/08/01) ♡
- Neuro-Otological and Peripheral Nerve Involvement in Fabry Disease. (2017/07/28) ♡
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