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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2002 | 1 |
2007 | 1 |
2017 | 1 |
2020 | 2 |
2024 | 0 |
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5 results
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Page 1
Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: report of three new mutations.
J Pediatr. 2002 Jun;140(6):781-3. doi: 10.1067/mpd.2002.124317.
J Pediatr. 2002.
PMID: 12072888
The variable clinical phenotype of liver glycogen synthase deficiency.
Spiegel R, Mahamid J, Orho-Melander M, Miron D, Horovitz Y.
Spiegel R, et al.
J Pediatr Endocrinol Metab. 2007 Dec;20(12):1339-42. doi: 10.1515/jpem.2007.20.12.1339.
J Pediatr Endocrinol Metab. 2007.
PMID: 18341095
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The variable clinical phenotype of three patients with hepatic glycogen synthase deficiency.
Kasapkara ÇS, Aycan Z, Açoğlu E, Senel S, Oguz MM, Ceylaner S.
Kasapkara ÇS, et al.
J Pediatr Endocrinol Metab. 2017 Apr 1;30(4):459-462. doi: 10.1515/jpem-2016-0317.
J Pediatr Endocrinol Metab. 2017.
PMID: 28245189
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Hepatic glycogen synthase (GYS2) deficiency: seven novel patients and seven novel variants.
Kamenets EA, Gusarova EA, Milovanova NV, Itkis YS, Strokova TV, Melikyan MA, Garyaeva IV, Rybkina IG, Nikitina NV, Zakharova EY.
Kamenets EA, et al.
JIMD Rep. 2020 Feb 25;53(1):39-44. doi: 10.1002/jmd2.12082. eCollection 2020 May.
JIMD Rep. 2020.
PMID: 32395408
Free PMC article.
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A patient with glycogen storage disease type 0 and a novel sequence variant in GYS2: a case report and literature review.
Arko JJ, Debeljak M, Tansek MZ, Battelino T, Groselj U.
Arko JJ, et al.
J Int Med Res. 2020 Aug;48(8):300060520936857. doi: 10.1177/0300060520936857.
J Int Med Res. 2020.
PMID: 32779500
Free PMC article.
Review.
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