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359 related items for PubMed ID: 10748407

  • 1. 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]

  • 2. 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
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  • 3. 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 15; 65(6):487-9. PubMed ID: 15151508
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  • 5. 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 15; 95(1):234-40. PubMed ID: 7814621
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  • 6. 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
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  • 7. [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 15; 41(4):252-5. PubMed ID: 14754525
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  • 8. 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 Apr 15; 46(3):146-9. PubMed ID: 11310582
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  • 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 15; 161 Suppl 1():S10-9. PubMed ID: 12373566
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  • 10. 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 15; 93(5):1994-9. PubMed ID: 8182131
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  • 11. 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 15; 18(6):629-31. PubMed ID: 9664612
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  • 12. Homogénéité mutationnelle de la glycogénose de type Ia en Tunisie.
    Cherif W, Rhouma FB, Chehida AB, Azzouz H, Monastiri K, Amri F, Chemli J, Kaabachi N, Abdelhak S, Tebib N, Dridi MF.
    Pathol Biol (Paris); 2011 Aug 15; 59(4):e93-6. PubMed ID: 19896294
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  • 13. [Prenatal diagnosis of glycogen storage disease Ia by screening for hot spot mutations in combination with the 1176 nucleotide polymorphism linkage analysis].
    Qiu WJ, Zhang YF, Pan J, Ye J, Liu XQ, Han LS, Gu XF.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Feb 15; 22(1):44-8. PubMed ID: 15696478
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  • 14. Molecular prenatal diagnosis of glycogen storage disease type Ia.
    Qu Y, Abdenur JE, Eng CM, Desnick RJ.
    Prenat Diagn; 1996 Apr 15; 16(4):333-6. PubMed ID: 8734807
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  • 15. 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
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  • 16. 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 20; 30(6):989. PubMed ID: 18008183
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  • 18. Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations.
    Seydewitz HH, Matern D.
    Hum Mutat; 2000 Jan 20; 15(1):115-6. PubMed ID: 10612834
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  • 19. The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.
    Veiga-da-Cunha M, Gerin I, Chen YT, Lee PJ, Leonard JV, Maire I, Wendel U, Vikkula M, Van Schaftingen E.
    Eur J Hum Genet; 1999 Sep 20; 7(6):717-23. PubMed ID: 10482962
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