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Results: 1 to 20 of 147

Similar articles for PubMed (Select 10960498)

1.

Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype.

Weston BW, Lin JL, Muenzer J, Cameron HS, Arnold RR, Seydewitz HH, Mayatepek E, Van Schaftingen E, Veiga-da-Cunha M, Matern D, Chen YT.

Pediatr Res. 2000 Sep;48(3):329-34.

PMID:
10960498
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.

The molecular basis of type 1 glycogen storage diseases.

Chou JY.

Curr Mol Med. 2001 Mar;1(1):25-44. Review.

PMID:
11899241
4.

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
5.

Glucose-6-phosphatase dependent substrate transport in the glycogen storage disease type-1a mouse.

Lei KJ, Chen H, Pan CJ, Ward JM, Mosinger B Jr, Lee EJ, Westphal H, Mansfield BC, Chou JY.

Nat Genet. 1996 Jun;13(2):203-9.

PMID:
8640227
6.

Glycogen storage disease type 1b due to a defect of glucose-6-phosphate translocase.

Narisawa K, Otomo H, Igarashi Y, Arai N, Otake M, Tada K, Kuzuya T.

J Inherit Metab Dis. 1982;5(4):227-8.

PMID:
6133035
7.

Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b.

Hiraiwa H, Pan CJ, Lin B, Moses SW, Chou JY.

J Biol Chem. 1999 Feb 26;274(9):5532-6.

8.

Molecular genetics of type 1 glycogen storage disease.

Janecke AR, Mayatepek E, Utermann G.

Mol Genet Metab. 2001 Jun;73(2):117-25. Review.

PMID:
11386847
9.

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
10.

The gene for glycogen-storage disease type 1b maps to chromosome 11q23.

Annabi B, Hiraiwa H, Mansfield BC, Lei KJ, Ubagai T, Polymeropoulos MH, Moses SW, Parvari R, Hershkovitz E, Mandel H, Fryman M, Chou JY.

Am J Hum Genet. 1998 Feb;62(2):400-5.

11.

[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
12.

Cloning and characterization of cDNAs encoding a candidate glycogen storage disease type 1b protein in rodents.

Lin B, Annabi B, Hiraiwa H, Pan CJ, Chou JY.

J Biol Chem. 1998 Nov 27;273(48):31656-60.

13.

Molecular Genetics of Type 1 Glycogen Storage Diseases.

Yang Chou J, Mansfield BC.

Trends Endocrinol Metab. 1999 Apr;10(3):104-113.

PMID:
10322403
14.
15.

Adenovirus-mediated gene therapy in a mouse model of glycogen storage disease type 1a.

Chou JY, Zingone A, Pan CJ.

Eur J Pediatr. 2002 Oct;161 Suppl 1:S56-61. Epub 2002 Jul 19. Review.

PMID:
12373573
16.

A molecular link between the common phenotypes of type 1 glycogen storage disease and HNF1alpha-null mice.

Hiraiwa H, Pan CJ, Lin B, Akiyama TE, Gonzalez FJ, Chou JY.

J Biol Chem. 2001 Mar 16;276(11):7963-7. Epub 2000 Dec 19.

17.

Correction of glycogen storage disease type 1a in a mouse model by gene therapy.

Zingone A, Hiraiwa H, Pan CJ, Lin B, Chen H, Ward JM, Chou JY.

J Biol Chem. 2000 Jan 14;275(2):828-32.

18.

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
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.

Historical highlights and unsolved problems in glycogen storage disease type 1.

Moses SW.

Eur J Pediatr. 2002 Oct;161 Suppl 1:S2-9. Epub 2002 Aug 23. Review.

PMID:
12373565
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