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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

282 related articles for article (PubMed ID: 8211187)

  • 1. Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.
    Lei KJ; Shelly LL; Pan CJ; Sidbury JB; Chou JY
    Science; 1993 Oct; 262(5133):580-3. PubMed ID: 8211187
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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; 93(5):1994-9. PubMed ID: 8182131
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase.
    Shieh JJ; Terzioglu M; Hiraiwa H; Marsh J; Pan CJ; Chen LY; Chou JY
    J Biol Chem; 2002 Feb; 277(7):5047-53. PubMed ID: 11739393
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Isolation of the gene for murine glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1A.
    Shelly LL; Lei KJ; Pan CJ; Sakata SF; Ruppert S; Schutz G; Chou JY
    J Biol Chem; 1993 Oct; 268(29):21482-5. PubMed ID: 8407995
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Two new mutations in the glucose-6-phosphatase gene cause glycogen storage disease in Hungarian patients.
    Parvari R; Lei KJ; Szonyi L; Narkis G; Moses S; Chou JY
    Eur J Hum Genet; 1997; 5(4):191-5. PubMed ID: 9359038
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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; 50(4):206-11. PubMed ID: 9001800
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 2(2):121-43. PubMed ID: 11949931
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies.
    Parvari R; Lei KJ; Bashan N; Hershkovitz E; Korman SH; Barash V; Lerman-Sagie T; Mandel H; Chou JY; Moses SW
    Am J Med Genet; 1997 Oct; 72(3):286-90. PubMed ID: 9332655
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [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
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Structure-function analysis of human glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.
    Lei KJ; Pan CJ; Liu JL; Shelly LL; Chou JY
    J Biol Chem; 1995 May; 270(20):11882-6. PubMed ID: 7744838
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab.
    Parvari R; Moses S; Hershkovitz E; Carmi R; Bashan N
    J Inherit Metab Dis; 1995; 18(1):21-7. PubMed ID: 7623438
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Correction of glycogen storage disease type 1a in a mouse model by gene therapy.
    Zingone A; Hiraiwa H; Pan CJ; Lin B; Chen H; Ward JM; Chou JY
    J Biol Chem; 2000 Jan; 275(2):828-32. PubMed ID: 10625614
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Adenovirus-mediated gene therapy in a mouse model of glycogen storage disease type 1a.
    Chou JY; Zingone A; Pan CJ
    Eur J Pediatr; 2002 Oct; 161 Suppl 1():S56-61. PubMed ID: 12373573
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan.
    Kajihara S; Matsuhashi S; Yamamoto K; Kido K; Tsuji K; Tanae A; Fujiyama S; Itoh T; Tanigawa K; Uchida M
    Am J Hum Genet; 1995 Sep; 57(3):549-55. PubMed ID: 7668282
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.