Glycogen storage disease type II historical perspective
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]
Overview
- In 1932, J.C. Pompe, a Dutch pathologist described "idiopathic hypertrophy of the heart" as a post-mortem finding in a 7-month-old girl. This was later confirmed as glycogen storage disease type 2.
Historical Perspective
Discovery
- In 1932, J.C. Pompe, a Dutch pathologist described "idiopathic hypertrophy of the heart" as a post-mortem finding in a 7-month-old girl. This was later confirmed as glycogen storage disease type 2.[1]
- Glycogen storage disease type 2 is the first storage disease to be described due to lysosome enzyme defect.
References
- ↑ Fernandes J (1995). "The history of the glycogen storage diseases". Eur J Pediatr. 154 (6): 423–4. PMID 7671937.