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Journal Abstract Search

350 related items for PubMed ID: 10797430

  • 1. 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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  • 2. 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
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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 13; 65(6):487-9. PubMed ID: 15151508
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  • 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 13; 41(4):252-5. PubMed ID: 14754525
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  • 5. 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 13; 16(1):89. PubMed ID: 10874313
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  • 7. 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 13; 161 Suppl 1():S10-9. PubMed ID: 12373566
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  • 9. 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 13; 93(5):1994-9. PubMed ID: 8182131
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  • 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
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  • 15. Molecular genetics of type 1 glycogen storage disease.
    Janecke AR, Mayatepek E, Utermann G.
    Mol Genet Metab; 2001 Jun 13; 73(2):117-25. PubMed ID: 11386847
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  • 16. Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patients.
    Trioche P, Francoual J, Chalas J, Capel L, Lindenbaum A, Odièvre M, Labrune P.
    Hum Mutat; 2000 Nov 13; 16(5):444. PubMed ID: 11058903
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  • 17. 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 13; 18(6):629-31. PubMed ID: 9664612
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  • 18. 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 13; 30(6):989. PubMed ID: 18008183
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  • 19. 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
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