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Fabry disease
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Publications and studies (1331)
- Corrigendum to "Long-term follow-up of renal function in patients treated with migalastat for Fabry disease" [Bichet et al., MGM Reports; 28 (2021) 100786]. (2021/10/02) ♡
- Globotriaosylsphingosine (lyso-Gb(3)) and analogues in plasma and urine of patients with Fabry disease and correlations with long-term treatment and genotypes in a nationwide female Danish cohort. (2021/10/01) ♡
- [The treatment for Fabry disease: focus on agalsidase alpha and beta]. (2021/10/01) ♡
- Human kidney organoids reveal the role of glutathione in Fabry disease. (2021/10/01) ♡
- New Keys to Early Diagnosis: Muscle Echogenicity, Nerve Ultrasound Patterns, Electrodiagnostic, and Clinical Parameters in 150 Patients with Hereditary Polyneuropathies. (2021/10/01) ♡
- Rational design of cell active C2-modified DGJ analogues for the inhibition of human α-galactosidase A (GALA). (2021/09/29) ♡
- Comparative urinary globotriaosylceramide analysis by thin-layer chromatography-immunostaining and liquid chromatography-tandem mass spectrometry in patients with Fabry disease. (2021/09/28) ♡
- 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. Atherosclerosis in Fabry Disease—A Contemporary Review. (2021/09/27) ♡
- 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. High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review. (2021/09/27) ♡
- 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. Pathogenesis and Molecular Mechanisms of Anderson-Fabry Disease and Possible New Molecular Addressed Therapeutic Strategies. (2021/09/18) ♡
- Design and Validation of a Custom NGS Panel Targeting a Set of Lysosomal Storage Diseases Candidate for NBS Applications. (2021/09/17) ♡
- Protein structural features predict responsiveness to pharmacological chaperone treatment for three lysosomal storage disorders. (2021/09/16) ♡
- Podocyturia in Fabry disease: a 10-year follow-up. (2021/09/16) ♡
- 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. Review of Mechanisms, Pharmacological Management, Psychosocial Implications, and Holistic Treatment of Pain in Fabry Disease. (2021/09/15) ♡
- Parsing Fabry Disease Metabolic Plasticity Using Metabolomics. (2021/09/08) ♡
- Role of serial cardiac (18)F-FDG PET-MRI in Anderson-Fabry disease: a pilot study. (2021/09/06) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Anderson-Fabry Disease: A Rare Cause of Levodopa-Responsive Early-Onset Parkinsonism. (2021/09/03) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Commentary: Anderson-Fabry Disease: A Rare Cause of Levodopa-Responsive Early Onset Parkinsonism. (2021/09/03) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Sensory-specific peripheral nerve pathology in a rat model of Fabry disease. (2021/09/02) ♡
- 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. Stroke and Chronic Kidney Disease in Fabry Disease. (2021/09/01) ♡
- Reflex Decay Test Can Reveal Ear Involvement in Fabry Disease. (2021/09/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. [Solitary angiokeratoma of the tongue]. (2021/09/01) ♡
- Reconstruction of the Cytokine Signaling in Lysosomal Storage Diseases by Literature Mining and Network Analysis. (2021/08/20) ♡
- First two years of reimbursed enzyme replacement therapy in the treatment of Fabry disease in Poland. (2021/08/20) ♡
- Relapsing minimal change disease superimposed on late-onset p.N215S Fabry nephropathy. (2021/08/13) ♡
- Current status of cardiac manifestations in Fabry disease and their treatment. (2021/08/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease. (2021/07/26) ♡
- Health-related quality of life in Norwegian adults with Fabry disease: Disease severity, pain, fatigue and psychological distress. (2021/07/16) ♡
- 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. Human-induced pluripotent stem cells as models for rare cardiovascular diseases: from evidence-based medicine to precision medicine. (2021/07/01) ♡
- Regional Strain Pattern and Correlation with Cardiac Magnetic Resonance Imaging in Fabry Disease. (2021/07/01) ♡
- Clinical Outcomes of People With Fabry Disease - ANZDATA Registry Study. (2021/06/29) ♡
- Plasma Globotriaosylsphingosine and α-Galactosidase A Activity as a Combined Screening Biomarker for Fabry Disease in a Large Japanese Cohort. (2021/06/19) ♡
- 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. New treatment for myocardial diseases. (2021/06/01) ♡
- Tenosynovial complications identify TTR cardiac amyloidosis among patients with hypertrophic cardiomyopathy phenotype. (2021/06/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. When Frequent (Pandemic) Occurs in a Non-Frequent Disease: COVID-19 and Fabry Disease: Report of Two Cases. (2021/05/24) ♡
- Expression of ACE2 in the Intact and Acutely Injured Kidney. (2021/05/18) ♡
- Fabry Disease on Peritoneal Dialysis with Cardiac Involvement. (2021/05/15) ♡
- 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. Nanotechnology-based approaches for treating lysosomal storage disorders, a focus on Fabry disease. (2021/05/01) ♡
- Characteristics of Vascular Phenotype in Fabry Patients. (2021/05/01) ♡
- Plectin ensures intestinal epithelial integrity and protects colon against colitis. (2021/05/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Invisible burden of COVID-19: enzyme replacement therapy disruptions. (2021/04/05) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A late-onset male Fabry disease patient with somatic mosaicism of a classical GLA mutation: a case report. (2021/04/01) ♡
- Does left ventricular function predict cardiac outcome in Anderson-Fabry disease? (2021/04/01) ♡
- Basal Segmental Longitudinal Strain: A Marker of Subclinical Myocardial Involvement in Anderson-Fabry Disease. (2021/04/01) ♡
- Does oncological outcome differ between restorative and nonrestorative low anterior resection in patients with primary rectal cancer? (2021/04/01) ♡
- Corneal densitometry: a potential indicator for early diagnosis of Fabry disease. (2021/04/01) ♡
- Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus. (2021/04/01) ♡
- What influences the outcome of active disinvestment processes in healthcare? A qualitative interview study on five recent cases of active disinvestment. (2021/04/01) ♡
- 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. Nutrition in adult patients with selected lysosomal storage diseases. (2021/03/10) ♡
- Globotrioasylsphingosine Levels and Optical Coherence Tomography Angiography in Fabry Disease Patients. (2021/03/05) ♡
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