In this episode we will discuss rare, inherited metabolic disorders in general, as well diseases such as Gaucher and other diseases. These genetic conditions are very rare. They can be diagnosed, after suspicion, by different screening test. But symptoms may vary greatly within these disorders and the road to an accurate diagnosis can therefore be challenging.
Guest in this episode is Professor Allan Lund. He is a board-certified specialist in pediatrics with expert training in rare pediatric metabolism. He currently works at Rigshospitalet in Copenhagen Denmark where he is the leader of Center for Rare metabolic diseases for children and adults. He has spent several years of research, diagnosing, and treating patients with different rare metabolic disorders.
Challenges in diagnosing Gaucher and other rare inherited metabolic disorders
MAT-BE-2200986 (ver. 1.0) 12 2022
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