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386 related items for PubMed ID: 7814621

  • 1. 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. PubMed ID: 7814621
    [Abstract] [Full Text] [Related]

  • 2. 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.
    J Clin Invest; 1994 May; 93(5):1994-9. PubMed ID: 8182131
    [Abstract] [Full Text] [Related]

  • 3. Molecular genetics of type 1 glycogen storage disease.
    Janecke AR, Mayatepek E, Utermann G.
    Mol Genet Metab; 2001 Jun; 73(2):117-25. PubMed ID: 11386847
    [Abstract] [Full Text] [Related]

  • 4. Glucose-6-phosphatase dependent substrate transport in the glycogen storage disease type-1a mouse.
    Lei KJ, Chen H, Pan CJ, Ward JM, Mosinger B, Lee EJ, Westphal H, Mansfield BC, Chou JY.
    Nat Genet; 1996 Jun; 13(2):203-9. PubMed ID: 8640227
    [Abstract] [Full Text] [Related]

  • 5. 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. PubMed ID: 10960498
    [Abstract] [Full Text] [Related]

  • 6. 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. PubMed ID: 10797430
    [Abstract] [Full Text] [Related]

  • 7. Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type ia, including novel mutations K76N, V166A and 540del5.
    Kozák L, Francová H, Hrabincová E, Stastná S, Pesková K, Elleder M.
    Hum Mutat; 2000 Jul 15; 16(1):89. PubMed ID: 10874313
    [Abstract] [Full Text] [Related]

  • 8. 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. PubMed ID: 10748407
    [Abstract] [Full Text] [Related]

  • 9. 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 13; 65(6):487-9. PubMed ID: 15151508
    [Abstract] [Full Text] [Related]

  • 10. 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 13; 16(11):1027-31. PubMed ID: 8953636
    [Abstract] [Full Text] [Related]

  • 11. Ontogeny of the murine glucose-6-phosphatase system.
    Pan CJ, Lei KJ, Chen H, Ward JM, Chou JY.
    Arch Biochem Biophys; 1998 Oct 01; 358(1):17-24. PubMed ID: 9750160
    [Abstract] [Full Text] [Related]

  • 12. Prenatal diagnosis of glycogen storage disease type Ia by restriction enzyme digestion.
    Trioche P, Francoual J, Audibert F, Chalas J, Lindenbaum A, Odièvre M, Labrune P.
    Prenat Diagn; 1998 Jun 01; 18(6):629-31. PubMed ID: 9664612
    [Abstract] [Full Text] [Related]

  • 13. 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 Jun 01; 46(3):146-9. PubMed ID: 11310582
    [Abstract] [Full Text] [Related]

  • 14. Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.
    Kure S, Suzuki Y, Matsubara Y, Sakamoto O, Shintaku H, Isshiki G, Hoshida C, Izumi I, Sakura N, Narisawa K.
    Biochem Biophys Res Commun; 1998 Jul 20; 248(2):426-31. PubMed ID: 9675154
    [Abstract] [Full Text] [Related]

  • 15. 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 20; 105(5):515-7. PubMed ID: 10598822
    [Abstract] [Full Text] [Related]

  • 16. Molecular prenatal diagnosis of glycogen storage disease type Ia.
    Qu Y, Abdenur JE, Eng CM, Desnick RJ.
    Prenat Diagn; 1996 Apr 20; 16(4):333-6. PubMed ID: 8734807
    [Abstract] [Full Text] [Related]

  • 17. 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. PubMed ID: 23352793
    [Abstract] [Full Text] [Related]

  • 18. Structure-function analysis of human glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.
    Lei KJ, Pan CJ, Liu JL, Shelly LL, Chou JY.
    J Biol Chem; 1995 May 19; 270(20):11882-6. PubMed ID: 7744838
    [Abstract] [Full Text] [Related]

  • 19. Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab.
    Parvari R, Moses S, Hershkovitz E, Carmi R, Bashan N.
    J Inherit Metab Dis; 1995 May 19; 18(1):21-7. PubMed ID: 7623438
    [Abstract] [Full Text] [Related]

  • 20. 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 19; 161 Suppl 1():S56-61. PubMed ID: 12373573
    [Abstract] [Full Text] [Related]

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