Glycogen storage disease type I historical perspective: Difference between revisions
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==Historical Perspective== | ==Historical Perspective== | ||
===Discovery=== | ===Discovery=== | ||
*In 1929, Von Gierke was the first to describe live glycogen storage disease in a 8 year old girl. | |||
*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> | *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> | ||
*In 1993, Brody et al located the gene encoding the catalytic unit of the G6Pase complex on chromosome 17.<ref name="pmid7774924">{{cite journal| author=Brody LC, Abel KJ, Castilla LH, Couch FJ, McKinley DR, Yin G et al.| title=Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17. | journal=Genomics | year= 1995 | volume= 25 | issue= 1 | pages= 238-47 | pmid=7774924 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7774924 }} </ref> | *In 1993, Brody et al located the gene encoding the catalytic unit of the G6Pase complex on chromosome 17.<ref name="pmid7774924">{{cite journal| author=Brody LC, Abel KJ, Castilla LH, Couch FJ, McKinley DR, Yin G et al.| title=Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17. | journal=Genomics | year= 1995 | volume= 25 | issue= 1 | pages= 238-47 | pmid=7774924 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7774924 }} </ref> | ||
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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 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).
Historical Perspective
Discovery
- In 1929, Von Gierke was the first to describe live glycogen storage disease in a 8 year old girl.
- 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]
- In 1993, Brody et al located the gene encoding the catalytic unit of the G6Pase complex on chromosome 17.[2]
Impact on Cultural History
- Glucose-6-phosphatase deficiency in GSD-1 is identified as first specific enzymopathy in a hereditary disorder.[3]
References
- ↑ CORI GT, CORI CF (1952). "Glucose-6-phosphatase of the liver in glycogen storage disease". J Biol Chem. 199 (2): 661–7. PMID 13022673.
- ↑ Brody LC, Abel KJ, Castilla LH, Couch FJ, McKinley DR, Yin G; et al. (1995). "Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17". Genomics. 25 (1): 238–47. PMID 7774924.
- ↑ Ozen H (2007). "Glycogen storage diseases: new perspectives". World J Gastroenterol. 13 (18): 2541–53. PMC 4146814. PMID 17552001.