BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

157 related articles for article (PubMed ID: 7623438)

  • 21. Glycogen storage disease type 1a in three siblings with the G270V mutation.
    Parvari R; Isam J; Moses SW
    J Inherit Metab Dis; 1999 Apr; 22(2):149-54. PubMed ID: 10234610
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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; 518(2):346-50. PubMed ID: 23352793
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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; 46(3):146-9. PubMed ID: 11310582
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Prenatal diagnosis of glycogen storage disease type 1a by single stranded conformation polymorphism (SSCP).
    Parvari R; Hershkovitz E; Carmi R; Moses S
    Prenat Diagn; 1996 Sep; 16(9):862-5. PubMed ID: 8905902
    [TBL] [Abstract][Full Text] [Related]  

  • 25. A novel mutation in a Brazilian patient with glycogen storage disease type 1a.
    Sartorato EL; Reis FC; Norato DY; Hackel C
    J Inherit Metab Dis; 1998 Jun; 21(4):447. PubMed ID: 9700613
    [No Abstract]   [Full Text] [Related]  

  • 26. A common 2 bp deletion mutation in the glucose-6-phosphatase gene in Indian patients with glycogen storage disease type Ia.
    Meaney C; Cranston T; Lee P; Genet S
    J Inherit Metab Dis; 2001 Aug; 24(4):517-8. PubMed ID: 11596659
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. 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]  

  • 29. Mutational spectrum and identification of five novel mutations in G6PC1 gene from a cohort of Glycogen Storage Disease Type 1a.
    Karthi S; Manimaran P; Varalakshmi P; Ganesh R; Kapoor S; Goyal M; Ashokkumar B
    Gene; 2019 Jun; 700():7-16. PubMed ID: 30890478
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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; 51(3):179-83. PubMed ID: 9137883
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A novel type heterozygous mutation in the glucose-6-phosphatase gene in a Chinese patient with glycogen storage disease Ia.
    Zhu J; Xing Y; Xing X; Ren A; Ye S; He G
    Gene; 2012 Dec; 511(1):122-4. PubMed ID: 23000067
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Cloning and characterization of cDNAs encoding a candidate glycogen storage disease type 1b protein in rodents.
    Lin B; Annabi B; Hiraiwa H; Pan CJ; Chou JY
    J Biol Chem; 1998 Nov; 273(48):31656-60. PubMed ID: 9822626
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 34. The inheritance of a novel mutation in glycogen storage disease type 1a.
    Hinds CJ; Burchell A
    Biochem Soc Trans; 1996 May; 24(2):232S. PubMed ID: 8736890
    [No Abstract]   [Full Text] [Related]  

  • 35. 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; 536(2):362-5. PubMed ID: 24355556
    [TBL] [Abstract][Full Text] [Related]  

  • 36. The molecular basis of type 1 glycogen storage diseases.
    Chou JY
    Curr Mol Med; 2001 Mar; 1(1):25-44. PubMed ID: 11899241
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. The gene for glycogen-storage disease type 1b maps to chromosome 11q23.
    Annabi B; Hiraiwa H; Mansfield BC; Lei KJ; Ubagai T; Polymeropoulos MH; Moses SW; Parvari R; Hershkovitz E; Mandel H; Fryman M; Chou JY
    Am J Hum Genet; 1998 Feb; 62(2):400-5. PubMed ID: 9463334
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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; 16(11):1027-31. PubMed ID: 8953636
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Molecular genetics of glycogen-storage disease type 1a in Chinese patients of Taiwan.
    Wong LJ; Hwu WL; Dai P; Chen TJ
    Mol Genet Metab; 2001 Feb; 72(2):175-80. PubMed ID: 11161844
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.