When and How to Diagnose Fabry Disease in Clinical Pratice
2020/07/10 by Martin Michaud, Wladimir Mauhin, Nadia Belmatoug +8 · 26 citations
Medicine · Chemistry · #Lysosomal Storage Disorders Research #Carbohydrate Chemistry and Synthesis #Trypanosoma species research and implications
paper · doi:10.1016/j.amjms.2020.07.011
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- Sex Differences in Circulating Inflammatory, Immune, and Tissue Growth Markers Associated with Fabry Disease-Related Cardiomyopathy
- LC-MS lipidomics of renal biopsies for the diagnosis of Fabry disease. [europepmc]
- Implications of Corneal Refractive Surgery in Patients with Fabry Disease. [europepmc]
- Drug Repositioning for Fabry Disease: Acetylsalicylic Acid Potentiates the Stabilization of Lysosomal Alpha-Galactosidase by Pharmacological Chaperones. [europepmc]
- Pulvinar Sign, Stroke and Their Relationship with Fabry Disease: A Systematic Review and Metanalysis. [europepmc]
- Raloxifene induced keratopathy: A case report. [europepmc]
- Cardiac Magnetic Resonance in Fabry Disease: Morphological, Functional, and Tissue Features. [europepmc]
- Curcumin Has Beneficial Effects on Lysosomal Alpha-Galactosidase: Potential Implications for the Cure of Fabry Disease. [europepmc]
- Clinical features and enzyme replacement therapy in 10 children with Fabry disease. [europepmc]
- Enzyme Replacement Therapy for FABRY Disease: Possible Strategies to Improve Its Efficacy. [europepmc]
- Late-onset fabry disease due to the p.Phe113Leu variant: the first italian cluster of five families. [europepmc]
- Anderson-Fabry disease cardiomyopathy: an update on epidemiology, diagnostic approach, management and monitoring strategies. [europepmc]
- Discordant renal progression of Fabry disease in male monozygotic twins: a case report. [europepmc]
- Investigation of OCTA Biomarkers in Fabry Disease: A Long Term Follow-Up of Macular Vessel Area Density and Foveal Avascular Zone Metrics. [europepmc]
- Correlation of retinal vascular characteristics with laboratory and ocular findings in Fabry disease: exploring ocular diagnostic biomarkers. [europepmc]
- Fabry disease and sleep disorders: a systematic review. [europepmc]
- Concurrent fabry disease and immunoglobulin a nephropathy: a case report. [europepmc]
- Inflammation and Exosomes in Fabry Disease Pathogenesis. [europepmc]
- Renal and multisystem effectiveness of 3.9 years of migalastat in a global real-world cohort: Results from the followME Fabry Pathfinders registry. [europepmc]
- Screening for Fabry disease in patients with left ventricular hypertrophy in China: A multicentre and prospective study. [europepmc]
- Inflammatory cytokine expression in Fabry disease: impact of disease phenotype and alterations under enzyme replacement therapy. [europepmc]
- In Silico Modeling of Fabry Disease Pathophysiology for the Identification of Early Cellular Damage Biomarker Candidates. [europepmc]
- Fabry Disease and Inflammation: Potential Role of p65 iso5, an Isoform of the NF-κB Complex. [europepmc]
- Sex Differences in Circulating Inflammatory, Immune, and Tissue Growth Markers Associated with Fabry Disease-Related Cardiomyopathy. [europepmc]
- Fabry Disease Beyond Storage: The Role of Inflammation in Disease Progression. [europepmc]
- Impact of migalastat therapy on corneal deposits in a female with Fabry disease: A case report. [europepmc]