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Mutations
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Classroom Contents
Fabry Disease - New Advances in Diagnosis and Therapy
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- 1 Intro
- 2 What is Fabry disease
- 3 Over 50 lysosomal storage diseases, many affect the heart
- 4 Basic Biology
- 5 Mutations
- 6 Genetics
- 7 Key organs involved
- 8 Symptoms & Signs
- 9 Skin manifestations
- 10 Ocular involvement
- 11 Nephropathy
- 12 Cardiac disease
- 13 Pathophysiology
- 14 Main clinical cardiac manifestations
- 15 Thick Myocardium
- 16 Arrhythmias
- 17 LGE patterns in thick hearts
- 18 Progression of Fabry cardiomyopathy
- 19 Stages of Cardiomyopathy
- 20 Microvascular disease
- 21 Cardiac & supportive management
- 22 Rx strategies
- 23 Gene therapy
- 24 Conclusions
- 25 Genetic testing