Literature DB >> 8534634

Glucose homeostasis in adulthood and in pregnancy in a patient with hepatic glycogen synthetase deficiency.

B M Byrne1, M D Gillmer, R C Turner, A Aynsley-Green.   

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Year:  1995        PMID： 8534634     DOI： 10.1111/j.1471-0528.1995.tb10886.x

Source DB:  PubMed          Journal:  Br J Obstet Gynaecol        ISSN： 0306-5456


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  7 in total

Review 1.  Hepatic glycogen synthase deficiency: an infrequently recognized cause of ketotic hypoglycemia.

Authors:  David A Weinstein; Catherine E Correia; Andrew C Saunders; Joseph I Wolfsdorf
Journal:  Mol Genet Metab       Date:  2005-12-06       Impact factor: 4.797

2.  PTG gene deletion causes impaired glycogen synthesis and developmental insulin resistance.

Authors:  Sean M Crosson; Ahmir Khan; John Printen; Jeffrey E Pessin; Alan R Saltiel
Journal:  J Clin Invest       Date:  2003-05       Impact factor: 14.808

3.  Liver glycogen synthase deficiency: a rarely diagnosed entity.

Authors:  R Gitzelmann; M A Spycher; G Feil; J Müller; B Seilnacht; M Stahl; N U Bosshard
Journal:  Eur J Pediatr       Date:  1996-07       Impact factor: 3.183

4.  Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.

Authors:  M Orho; N U Bosshard; N R Buist; R Gitzelmann; A Aynsley-Green; P Blümel; M C Gannon; F Q Nuttall; L C Groop
Journal:  J Clin Invest       Date:  1998-08-01       Impact factor: 14.808

5.  Novel GYS2 mutations in a Japanese patient with glycogen storage disease type 0a.

Authors:  Hiroyuki Iijima; Yasuhiko Ago; Ryoji Fujiki; Takaaki Takayanagi; Mitsuru Kubota
Journal:  Mol Genet Metab Rep       Date:  2021-01-10

6.  Pediatric patient with hyperketotic hypoglycemia diagnosed with glycogen synthase deficiency due to the novel homozygous mutation in GYS2.

Authors:  Edyta Szymańska; Dariusz Rokicki; Urszula Wątrobinska; Elżbieta Ciara; Paulina Halat; Rafał Płoski; Anna Tylki-Szymańka
Journal:  Mol Genet Metab Rep       Date:  2015-08-24

Review 7.  A patient with glycogen storage disease type 0 and a novel sequence variant in GYS2: a case report and literature review.

Authors:  Janez Jan Arko; Marusa Debeljak; Mojca Zerjav Tansek; Tadej Battelino; Urh Groselj
Journal:  J Int Med Res       Date:  2020-08       Impact factor: 1.671
  7 in total

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