These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

570 related items for PubMed ID: 14754525

  • 1. [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. PubMed ID: 14754525
    [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
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. Identification of a point mutation (G727T) in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type 1a, and carrier screening in healthy volunteers.
    Okubo M, Aoyama Y, Kishimoto M, Shishiba Y, Murase T.
    Clin Genet; 1997 Mar 13; 51(3):179-83. PubMed ID: 9137883
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. Canine model and genomic structural organization of glycogen storage disease type Ia (GSD Ia).
    Kishnani PS, Faulkner E, VanCamp S, Jackson M, Brown T, Boney A, Koeberl D, Chen YT.
    Vet Pathol; 2001 Jan 13; 38(1):83-91. PubMed ID: 11199168
    [Abstract] [Full Text] [Related]

  • 7. [Mutation analysis of glycogen debrancher enzyme gene in five Chinese patients with glycogen storage disease type III].
    Zhuang TF, Qiu ZQ, Wei M, Huang SZ.
    Zhonghua Er Ke Za Zhi; 2005 Feb 13; 43(2):85-8. PubMed ID: 15833157
    [Abstract] [Full Text] [Related]

  • 8. 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 13; 95(1):234-40. PubMed ID: 7814621
    [Abstract] [Full Text] [Related]

  • 9. A patient with glycogen storage disease type Ia combined with chronic hepatitis B infection: a case report.
    Wang W, Yu R, Tan W, Dan Y, Deng G, Xia J.
    BMC Med Genet; 2019 May 20; 20(1):85. PubMed ID: 31109299
    [Abstract] [Full Text] [Related]

  • 10. 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 20; 2(2):121-43. PubMed ID: 11949931
    [Abstract] [Full Text] [Related]

  • 11. [Mutation in the SLC37A4 gene of glycogen storage disease type Ib in 15 families of the mainland of China].
    Qiu ZQ, Lu CX, Wang W, Qiu JJ, Wei M.
    Zhonghua Er Ke Za Zhi; 2011 Mar 20; 49(3):203-8. PubMed ID: 21575371
    [Abstract] [Full Text] [Related]

  • 12. 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 20; 65(6):487-9. PubMed ID: 15151508
    [Abstract] [Full Text] [Related]

  • 13. 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 20; 161 Suppl 1():S10-9. PubMed ID: 12373566
    [Abstract] [Full Text] [Related]

  • 14. 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. PubMed ID: 24355556
    [Abstract] [Full Text] [Related]

  • 15. Mutational analysis and clinical investigations of medically diagnosed GSD 1a patients from Pakistan.
    Gul B, Firasat S, Shan T, Tehreem R, Afshan K.
    PLoS One; 2023 Feb 25; 18(11):e0288965. PubMed ID: 38033126
    [Abstract] [Full Text] [Related]

  • 16. 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 25; 18(6):629-31. PubMed ID: 9664612
    [Abstract] [Full Text] [Related]

  • 17. 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 25; 50(4):206-11. PubMed ID: 9001800
    [Abstract] [Full Text] [Related]

  • 18. Sustained hepatic and renal glucose-6-phosphatase expression corrects glycogen storage disease type Ia in mice.
    Sun MS, Pan CJ, Shieh JJ, Ghosh A, Chen LY, Mansfield BC, Ward JM, Byrne BJ, Chou JY.
    Hum Mol Genet; 2002 Sep 01; 11(18):2155-64. PubMed ID: 12189168
    [Abstract] [Full Text] [Related]

  • 19. Glucose-6-phosphatase gene mutations in 20 adult Japanese patients with glycogen storage disease type 1a with reference to hepatic tumors.
    Nakamura T, Ozawa T, Kawasaki T, Nakamura H, Sugimura H.
    J Gastroenterol Hepatol; 2001 Dec 01; 16(12):1402-8. PubMed ID: 11851840
    [Abstract] [Full Text] [Related]

  • 20. 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 01; 93(5):1994-9. PubMed ID: 8182131
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 29.