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Items: 1 to 20 of 132

1.

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.

Am J Hum Genet. 1995 Oct;57(4):766-71.

2.

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.

3.

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
4.

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.

J Inherit Metab Dis. 1999 Feb;22(1):43-9.

PMID:
10070617
5.

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
6.
8.

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
9.

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
10.

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
11.

Prenatal diagnosis of glycogen storage disease type 1a by single stranded conformation polymorphism (SSCP).

Parvari R, Hershkovitz E, Carmi R, Moses S.

Prenat Diagn. 1996 Sep;16(9):862-5.

PMID:
8905902
12.
13.

Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease.

Shaiu WL, Kishnani PS, Shen J, Liu HM, Chen YT.

Mol Genet Metab. 2000 Jan;69(1):16-23.

PMID:
10655153
14.

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
15.

Glycogen storage disease type Ia: molecular study in Brazilian patients.

de C Reis F, Caldas HC, Norato DY, Schwartz IV, Giugliani R, Burin MG, Sartorato EL.

J Hum Genet. 2001;46(3):146-9.

PMID:
11310582
16.

Genetic analysis of the glucose-6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family.

Lee WJ, Lee HM, Chi CS, Shu SG, Lin LY, Lin WH.

Clin Genet. 1996 Oct;50(4):206-11.

PMID:
9001800
17.

The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase.

Shieh JJ, Terzioglu M, Hiraiwa H, Marsh J, Pan CJ, Chen LY, Chou JY.

J Biol Chem. 2002 Feb 15;277(7):5047-53. Epub 2001 Dec 5.

18.

Two new mutations in the glucose-6-phosphatase gene cause glycogen storage disease in Hungarian patients.

Parvari R, Lei KJ, Szonyi L, Narkis G, Moses S, Chou JY.

Eur J Hum Genet. 1997 Jul-Aug;5(4):191-5.

PMID:
9359038
19.

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
20.

Enzymatic characterization of four new mutations in the glucose-6 phosphatase (G6PC) gene which cause glycogen storage disease type 1a.

Bruni N, Rajas F, Montano S, Chevalier-Porst F, Maire I, Mithieux G.

Ann Hum Genet. 1999 Mar;63(Pt 2):141-6.

PMID:
10738525

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