The visual physician’s e-guides are designed as practical visual aids aiming at assisting you in better understanding lysosomal storage diseases, as they simply provide concrete, visual information on medical conditions that require the collaboration of the healthcare community to ensure that rare disease patients are diagnosed early on and placed on the appropriate treatment. Navigation through the e-guides will give you a glimpse into these rare diseases and why they should be included in your differential diagnosis map by addressing the following:
• The etiology of LSDs and their inheritance pattern
• The main signs and symptoms of LSDs
• The significance of early diagnosis/consequences of diagnosis delay
• LSD management and the importance of a multidisciplinary approach
• MPS Disease
• Pompe Disease
• Fabry Disease
• Gaucher Disease
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