Pompe Disease Support Groups - South African Foundation for Rare Disorders (SAFRD)

Phone: +27 (0)11 489 9223/4 (Johannesburg) / +27 (0)21 406 6304 (Cape Town)
Contact Person: Division of Human Genetics (National Health Laboratory Service) or Division of Human Genetics (University of Cape Town)
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Pompe Disease Support Groups - South African Foundation for Rare Disorders

Pompe disease is a rare genetic genetic disorder caused by a deficiency or dysfunction of an enzyme in the lysosome of certain cells. This enzyme defect results in symptoms such as profound muscle weakness and an enlarged heart... Read More

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