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Similar articles for PubMed (Select 22397040)

1.

Hypercalcemia in glycogen storage disease type I patients of Turkish origin.

Kasapkara CS, Tümer L, Okur I, Eminoğlu T, Ezgü FS, Hasanoğlu A.

Turk J Pediatr. 2012 Jan-Feb;54(1):35-7.

2.

Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex.

Chou JY, Matern D, Mansfield BC, Chen YT.

Curr Mol Med. 2002 Mar;2(2):121-43. Review.

PMID:
11949931
3.

Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.

Matern D, Seydewitz HH, Bali D, Lang C, Chen YT.

Eur J Pediatr. 2002 Oct;161 Suppl 1:S10-9. Epub 2002 Jul 27.

PMID:
12373566
4.

[Heterogeneous phenotypes in Chinese glycogen storage disease type Ia patients with homozygous G727T mutation].

Qiu ZQ, Wei M, Liu G, Liu GY.

Zhonghua Er Ke Za Zhi. 2003 Apr;41(4):252-5. Chinese.

PMID:
14754525
5.

Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia.

Ki CS, Han SH, Kim HJ, Lee SG, Kim EJ, Kim JW, Choe YH, Seo JK, Chang YJ, Park JY.

Clin Genet. 2004 Jun;65(6):487-9.

PMID:
15151508
6.

Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells.

Akanuma J, Nishigaki T, Fujii K, Matsubara Y, Inui K, Takahashi K, Kure S, Suzuki Y, Ohura T, Miyabayashi S, Ogawa E, Iinuma K, Okada S, Narisawa K.

Am J Med Genet. 2000 Mar 13;91(2):107-12.

PMID:
10748407
7.

Heterogeneous mutations in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia.

Takahashi K, Akanuma J, Matsubara Y, Fujii K, Kure S, Suzuki Y, Wataya K, Sakamoto O, Aoki Y, Ogasawara M, Ohura T, Miyabayashi S, Narisawa K.

Am J Med Genet. 2000 May 15;92(2):90-4.

PMID:
10797430
8.

Gouty tendinitis revealing glycogen storage disease Type Ia in two adolescents.

Carvès C, Duquenoy A, Toutain F, Trioche P, Zarnitski C, Le Roux P, Le Luyer B.

Joint Bone Spine. 2003 Mar;70(2):149-53.

PMID:
12713862
9.

Rapid screening of 12 common mutations in Turkish GSD 1a patients using electronic DNA microarray.

Eminoglu TF, Ezgu FS, Hasanoglu A, Tumer L.

Gene. 2013 Apr 15;518(2):346-50. doi: 10.1016/j.gene.2012.12.104. Epub 2013 Jan 23.

PMID:
23352793
10.

Continuous glucose monitoring in children with glycogen storage disease type I.

Kasapkara ÇS, Cinasal Demir G, Hasanoğlu A, Tümer L.

Eur J Clin Nutr. 2014 Jan;68(1):101-5. doi: 10.1038/ejcn.2013.186. Epub 2013 Oct 23.

PMID:
24149443
11.

A novel homozygous no-stop mutation in G6PC gene from a Chinese patient with glycogen storage disease type Ia.

Gu LL, Li XH, Han Y, Zhang DH, Gong QM, Zhang XX.

Gene. 2014 Feb 25;536(2):362-5. doi: 10.1016/j.gene.2013.11.059. Epub 2013 Dec 16.

PMID:
24355556
12.

Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c.

Lei KJ, Shelly LL, Lin B, Sidbury JB, Chen YT, Nordlie RC, Chou JY.

J Clin Invest. 1995 Jan;95(1):234-40.

13.

Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.

Rake JP, ten Berge AM, Visser G, Verlind E, Niezen-Koning KE, Buys CH, Smit GP, Scheffer H.

Eur J Pediatr. 2000 May;159(5):322-30. Review.

PMID:
10834516
14.

Mutation spectrum of glycogen storage disease type Ia in Tunisia: implication for molecular diagnosis.

Barkaoui E, Cherif W, Tebib N, Charfeddine C, Ben Rhouma F, Azzouz H, Ben Chehida A, Monastiri K, Chemli J, Amri F, Ben Turkia H, Abdelmoula MS, Kaabachi N, Abdelhak S, Ben Dridi MF.

J Inherit Metab Dis. 2007 Nov;30(6):989. Epub 2007 Nov 19.

PMID:
18008183
15.

Prenatal diagnosis in a Chinese family with type Ia glycogen storage disease by PCR-based genetic analysis.

Lee WJ, Yang CH, Ho ES, Shih A, Lin LY, Lin WH.

Prenat Diagn. 1996 Nov;16(11):1027-31.

PMID:
8953636
16.

The upstream enhancer elements of the G6PC promoter are critical for optimal G6PC expression in murine glycogen storage disease type Ia.

Lee YM, Pan CJ, Koeberl DD, Mansfield BC, Chou JY.

Mol Genet Metab. 2013 Nov;110(3):275-80. doi: 10.1016/j.ymgme.2013.06.014. Epub 2013 Jun 25.

17.

Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.

Chou JY, Mansfield BC.

Hum Mutat. 2008 Jul;29(7):921-30. doi: 10.1002/humu.20772. Review.

18.

Sustained hepatic and renal glucose-6-phosphatase expression corrects glycogen storage disease type Ia in mice.

Sun MS, Pan CJ, Shieh JJ, Ghosh A, Chen LY, Mansfield BC, Ward JM, Byrne BJ, Chou JY.

Hum Mol Genet. 2002 Sep 1;11(18):2155-64.

19.

Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies.

Parvari R, Lei KJ, Bashan N, Hershkovitz E, Korman SH, Barash V, Lerman-Sagie T, Mandel H, Chou JY, Moses SW.

Am J Med Genet. 1997 Oct 31;72(3):286-90.

PMID:
9332655
20.

Type-1c glycogen storage disease is not caused by mutations in the glucose-6-phosphate transporter gene.

Lin B, Hiraiwa H, Pan CJ, Nordlie RC, Chou JY.

Hum Genet. 1999 Nov;105(5):515-7.

PMID:
10598822
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