Glycogen storage disease type II historical perspective: Difference between revisions
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{{Glycogen storage disease type II}} | {{Glycogen storage disease type II}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}} {{Anmol}} | ||
==Overview== | ==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== | ==Historical Perspective== | ||
===Discovery=== | ===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.<ref name="pmid7671937">{{cite journal| author=Fernandes J| title=The history of the glycogen storage diseases. | journal=Eur J Pediatr | year= 1995 | volume= 154 | issue= 6 | pages= 423-4 | pmid=7671937 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7671937 }} </ref> | ||
*Glycogen storage disease type 2 is the first disease to be described due to lysosome enzyme defect. | |||
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==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} |
Revision as of 18:13, 8 January 2018
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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 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.