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Fabry disease
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Publications and studies (1331)
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Effects Of Sodium Glucose Cotranspoter 2 Inhibitors On Heart And Kidneys In Fabry Disease Patients (2023-02-02) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Qualitative Study on the Pain and Quality of Life of Patients With Fabry Disease (2023-01-20) ♡
- 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 Benefits of Early versus Late Therapeutic Intervention in Fabry Disease. (2022/12/30) ♡
- Development of Lanzyme as the Potential Enzyme Replacement Therapy Drug for Fabry Disease. (2022/12/27) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Gene Expression Analysis in gla-Mutant Zebrafish Reveals Enhanced Ca(2+) Signaling Similar to Fabry Disease. (2022/12/26) ♡
- Mass Spectrometric Comparison of the Cardiac Globotriaosylceramide Profile in 5 Patients With Fabry's Disease. (2022/12/23) ♡
- Fabry disease with atypical phenotype identified by massively parallel sequencing in early-onset kidney failure. (2022/12/15) ♡
- Association of Fabry Disease with Hearing Loss, Tinnitus, and Sudden Hearing Loss: A Nationwide Population-Based Study. (2022/12/13) ♡
- Assessment and impact of dose escalation on anti-drug antibodies in Fabry disease. (2022/12/09) ♡
- First-in-human in vivo genome editing via AAV-zinc-finger nucleases for mucopolysaccharidosis I/II and hemophilia B. (2022/12/07) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Transcatheter Tricuspid Valve Replacement for Anderson Fabry Disease With Severe Tricuspid Regurgitation. (2022/12/07) ♡
- 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. Anderson-Fabry Disease: A New Piece of the Lysosomal Puzzle in Parkinson Disease? (2022/12/05) ♡
- Abnormal Pre-mRNA Splicing in Exonic Fabry Disease-Causing GLA Mutations. (2022/12/03) ♡
- Nationwide screening of Fabry disease in patients with hypertrophic cardiomyopathy in Czech Republic. (2022/12/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Late-onset Fabry disease due to a new (p.Pro380Leu) pathogenic variant of GLA Gene. (2022/12/01) ♡
- Visual outcome, ocular findings, and visual quality of life in patients with Fabry disease. (2022/12/01) ♡
- Population Pharmacokinetics of Oral Migalastat in Adolescents and Adults With and Without Renal Impairment. (2022/12/01) ♡
- 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. Clinical relevance of globotriaosylceramide accumulation in Fabry disease and the effect of agalsidase beta in affected tissues. (2022/12/01) ♡
- 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. Oral tolerance to prevent anti-drug antibody formation in protein replacement therapies. (2022/12/01) ♡
- Automated Measurement of Native T1 and Extracellular Volume Fraction in Cardiac Magnetic Resonance Imaging Using a Commercially Available Deep Learning Algorithm. (2022/12/01) ♡
- [Ten questions on cardiac magnetic resonance in patients with heart failure: from etiological diagnosis to prognostic stratification]. (2022/12/01) ♡
- 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. Triglyceride Lowering with Pemafibrate to Reduce Cardiovascular Risk. (2022/11/24) ♡
- 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. Association between white matter alterations and domain-specific cognitive impairment in cerebral small vessel disease: A meta-analysis of diffusion tensor imaging. (2022/11/22) ♡
- Development and validation of a disease-specific quality of life scale for adult patients with Fabry disease in Japan. (2022/11/17) ♡
- Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience. (2022/11/16) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Polycystic kidney disease complicates renal pathology in a family with Fabry disease. (2022/11/14) ♡
- Genetics and clinics: together to diagnose cardiomyopathies. (2022/11/12) ♡
- 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. D313Y Variant in Fabry Disease: A Systematic Review and Meta-analysis. (2022/11/08) ♡
- 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. [Cardiac MRI in nonischemic cardiomyopathies]. (2022/11/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Evaluation of demographic, clinical, and aetiological data of patients admitted to cardiology clinics and diagnosed with left ventricular hypertrophy in Turkish population (LVH-TR). (2022/11/01) ♡
- 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. [Pulmonary phenotypes of inborn errors of metabolism]. (2022/11/01) ♡
- 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. Cardiac Magnetic Resonance in Fabry Disease: Morphological, Functional, and Tissue Features. (2022/11/01) ♡
- Facial features of lysosomal storage disorders. (2022/11/01) ♡
- Fabry disease in South and Central Asia: Is it truly a rare disease or underappreciated? (2022/11/01) ♡
- 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. Fabry disease: Definition, Incidence, Clinical presentations and Treatment - Focus on cardiac involvement. (2022/11/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Late-Onset Fabry Disease Affecting the Kidneys and Liver While Sparing the Heart: A Case Report. (2022/11/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Fabry Disease: Report of Two Cases with Uncommon Presentation. (2022/11/01) ♡
- α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response. (2022/10/31) ♡
- 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. Cardiovascular Magnetic Resonance Imaging Patterns in Rare Cardiovascular Diseases. (2022/10/29) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Antibodies against recombinant enzyme in the treatment of Fabry disease: Now you see them, now you don't. (2022/10/29) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Lamellar Bodies in Podocytes Associated With Compound Heterozygous Mutations for Niemann Pick Type C1 Mimicking Fabry Disease, a Case Report. (2022/10/28) ♡
- 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. Fabry disease: Mechanism and therapeutics strategies. (2022/10/26) ♡
- Patients' view on gene therapy development for lysosomal storage disorders: a qualitative study. (2022/10/21) ♡
- Screening for Fabry's disease in a high-risk subpopulation of FMF. (2022/10/21) ♡
- 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. IgA nephropathy with mimicking Fabry disease: A case report and literature review. (2022/10/21) ♡
- Corrigendum: Clinical characteristics, renal involvement, and therapeutic options of pediatric patients with Fabry disease. (2022/10/19) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Cardiac fibroblast activation in Fabry disease on (18)F-fibroblast activation protein inhibitor positron emission tomography/computed tomography imaging. (2022/10/18) ♡
- 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. Rare lysosomal disease registries: lessons learned over three decades of real-world evidence. (2022/10/17) ♡
- 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. An Overview of Molecular Mechanisms in Fabry Disease. (2022/10/12) ♡
- Methylome Profiling in Fabry Disease in Clinical Practice: A Proof of Concept. (2022/10/11) ♡
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