Glycogen storage disease type I historical perspective: Difference between revisions
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==Historical Perspective== | ==Historical Perspective== | ||
*In 1952, Gerty T. Cori and Carl F. Cori were the first to discover the association between deficiency of glucose-6-phosphatase and | ===Discovery=== | ||
== | *In 1952, Gerty T. Cori and Carl F. Cori were the first to discover the association between deficiency of glucose-6-phosphatase and glycogen storage disease type I (GSD-1).<ref name="pmid13022673">{{cite journal| author=CORI GT, CORI CF| title=Glucose-6-phosphatase of the liver in glycogen storage disease. | journal=J Biol Chem | year= 1952 | volume= 199 | issue= 2 | pages= 661-7 | pmid=13022673 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13022673 }} </ref> | ||
===Impact on Cultural History=== | |||
*Glucose-6-phosphatase deficiency in GSD-1 is identified as first specific enzymopathy in a hereditary disorder.<ref name="pmid17552001">{{cite journal| author=Ozen H| title=Glycogen storage diseases: new perspectives. | journal=World J Gastroenterol | year= 2007 | volume= 13 | issue= 18 | pages= 2541-53 | pmid=17552001 | doi= | pmc=4146814 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17552001 }} </ref> | |||
{{reflist|2}} | {{reflist|2}} | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Historical Perspective
Discovery
- In 1952, Gerty T. Cori and Carl F. Cori were the first to discover the association between deficiency of glucose-6-phosphatase and glycogen storage disease type I (GSD-1).[1]
Impact on Cultural History
- Glucose-6-phosphatase deficiency in GSD-1 is identified as first specific enzymopathy in a hereditary disorder.[2]
- ↑ CORI GT, CORI CF (1952). "Glucose-6-phosphatase of the liver in glycogen storage disease". J Biol Chem. 199 (2): 661–7. PMID 13022673.
- ↑ Ozen H (2007). "Glycogen storage diseases: new perspectives". World J Gastroenterol. 13 (18): 2541–53. PMC 4146814. PMID 17552001.