
Excellence in Pediatrics is a non-profit
global network dedicated to advancing
pediatric healthcare.
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A webinar series dedicated to spotting the early signs of alpha-mannosidosis (AM), an ultra-rare genetic disorder caused by a deficiency of the lysosomal enzyme alpha-mannosidase. The symptoms, severity, and progression of alpha-mannosidosis vary widely between individuals, making diagnosis challenging and often delayed. Minimizing the time to diagnosis is important in ensuring that individuals with alpha-mannosidosis and their families receive timely access to support and specialist MDT care. Join our experts as they explore alpha-mannosidosis's diverse symptoms, challenges, solutions for timely diagnosis, and best practices for long-term management and multidisciplinary care. The webinars will feature case study examples, practical advice, and audience Q&A.
Evaluating how to diagnose MPS and alpha-mannosidosis early - the early signs and symptoms - Reviewing the pathophysiology of MPS and alpha-mannosidosisFrom disease manifestation to diagnosis: diagnostic tools and screening - exploring the latest diagnostic options available to you as a pediatric HCPReviewing the differential diagnosis between MPS and MA - Exploring a case study of typical diagnostic pathways