BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

280 related articles for article (PubMed ID: 10482962)

  • 1. 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; 7(6):717-23. PubMed ID: 10482962
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 248(2):426-31. PubMed ID: 9675154
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.
    Veiga-da-Cunha M; Gerin I; Chen YT; de Barsy T; de Lonlay P; Dionisi-Vici C; Fenske CD; Lee PJ; Leonard JV; Maire I; McConkie-Rosell A; Schweitzer S; Vikkula M; Van Schaftingen E
    Am J Hum Genet; 1998 Oct; 63(4):976-83. PubMed ID: 9758626
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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. PubMed ID: 12373566
    [TBL] [Abstract][Full Text] [Related]  

  • 6. How many forms of glycogen storage disease type I?
    Veiga-da-Cunha M; Gerin I; Van Schaftingen E
    Eur J Pediatr; 2000 May; 159(5):314-8. PubMed ID: 10834514
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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
    [TBL] [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; 91(2):107-12. PubMed ID: 10748407
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Glycogen storage disease type Ib without neutropenia generated by a novel splice-site mutation in the glucose-6-phosphate translocase gene.
    Angaroni CJ; Labrune P; Petit F; Sastre D; Capra AE; Dodelson de Kremer R; Argaraña CE
    Mol Genet Metab; 2006 May; 88(1):96-9. PubMed ID: 16490377
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Allelic heterogeneity of glycogen storage disease type Ib in French patients: a study of 11 cases.
    Trioche P; Petit F; Francoual J; Gajdos V; Capel L; Poüs C; Labrune P
    J Inherit Metab Dis; 2004; 27(5):621-3. PubMed ID: 15669677
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Homology modeling of the human microsomal glucose 6-phosphate transporter explains the mutations that cause the glycogen storage disease type Ib.
    Almqvist J; Huang Y; Hovmöller S; Wang DN
    Biochemistry; 2004 Jul; 43(29):9289-97. PubMed ID: 15260472
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 92(2):90-4. PubMed ID: 10797430
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type Ib.
    Ihara K; Kuromaru R; Hara T
    Hum Genet; 1998 Oct; 103(4):493-6. PubMed ID: 9856496
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 65(6):487-9. PubMed ID: 15151508
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 16(1):89. PubMed ID: 10874313
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Gene mutations and clinical manifestations in children with glycogen storage disease type Ib].
    Liang CL; Liu L; Sheng HY; Jiang MY; Yin X; Mei HF; Cheng J; Zhang W; Fan LP
    Zhongguo Dang Dai Er Ke Za Zhi; 2013 Aug; 15(8):661-5. PubMed ID: 23965881
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 15(1):115-6. PubMed ID: 10612834
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Impaired glucose homeostasis, neutrophil trafficking and function in mice lacking the glucose-6-phosphate transporter.
    Chen LY; Shieh JJ; Lin B; Pan CJ; Gao JL; Murphy PM; Roe TF; Moses S; Ward JM; Lee EJ; Westphal H; Mansfield BC; Chou JY
    Hum Mol Genet; 2003 Oct; 12(19):2547-58. PubMed ID: 12925567
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b.
    Han SH; Ki CS; Lee JE; Hong YJ; Son BK; Lee KH; Choe YH; Lee SY; Kim JW
    J Korean Med Sci; 2005 Jun; 20(3):499-501. PubMed ID: 15953877
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.