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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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1994 | 1 |
1995 | 1 |
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2000 | 1 |
2002 | 1 |
2017 | 1 |
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Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypes.
Hum Mutat. 2000 Apr;15(4):381. doi: 10.1002/(SICI)1098-1004(200004)15:4<381::AID-HUMU13>3.0.CO;2-K.
Hum Mutat. 2000.
PMID: 10737986
Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.
Lei KJ, Chen YT, Chen H, Wong LJ, Liu JL, McConkie-Rosell A, Van Hove JL, Ou HC, Yeh NJ, Pan LY, et al.
Lei KJ, et al.
Am J Hum Genet. 1995 Oct;57(4):766-71.
Am J Hum Genet. 1995.
PMID: 7573034
Free PMC article.
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Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.
Lei KJ, Pan CJ, Shelly LL, Liu JL, Chou JY.
Lei KJ, et al.
J Clin Invest. 1994 May;93(5):1994-9. doi: 10.1172/JCI117192.
J Clin Invest. 1994.
PMID: 8182131
Free PMC article.
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Mutation analysis in 24 French patients with glycogen storage disease type 1a.
Chevalier-Porst F, Bozon D, Bonardot AM, Bruni N, Mithieux G, Mathieu M, Maire I.
Chevalier-Porst F, et al.
J Med Genet. 1996 May;33(5):358-60. doi: 10.1136/jmg.33.5.358.
J Med Genet. 1996.
PMID: 8733042
Free PMC article.
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Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia.
Stroppiano M, Regis S, DiRocco M, Caroli F, Gandullia P, Gatti R.
Stroppiano M, et al.
J Inherit Metab Dis. 1999 Feb;22(1):43-9. doi: 10.1023/a:1005495131118.
J Inherit Metab Dis. 1999.
PMID: 10070617
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Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex.
Chou JY, Matern D, Mansfield BC, Chen YT.
Chou JY, et al.
Curr Mol Med. 2002 Mar;2(2):121-43. doi: 10.2174/1566524024605798.
Curr Mol Med. 2002.
PMID: 11949931
Review.
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Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control.
Peeks F, Steunenberg TAH, de Boer F, Rubio-Gozalbo ME, Williams M, Burghard R, Rajas F, Oosterveer MH, Weinstein DA, Derks TGJ.
Peeks F, et al.
J Inherit Metab Dis. 2017 Sep;40(5):695-702. doi: 10.1007/s10545-017-0039-1. Epub 2017 Apr 10.
J Inherit Metab Dis. 2017.
PMID: 28397058
Free PMC article.
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