Welcome to Practicing Paediatrics, concise introductions to specialist conditions treated at GOSH. In today's episode we speak to Dr James Davison, consultant in metabolic medicine, about Pompe Disease. We talk about pathophysiology, inheritance and presentation, investigation, diagnosis, management and current research.
Peer review by Dr Andrew Broomfield
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Did you know that GOSH runs Mock Exam sessions for the MRCPCH? Find out more here: https://www.gosh.nhs.uk/working-here/gosh-learning-academy/education-and-training/postgraduate-medical-education/mrcpch-examinations/mock-examinations/
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Resources mentioned:
Association for Glycogen Storage Diseases UK: https://agsd.org.uk/
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This podcast is brought to you the GOSH Learning Academy. To find more about our work you can visit our website here: https://www.gosh.nhs.uk/working-here/gosh-learning-academy/.
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