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570 related items for PubMed ID: 14754525

  • 21. A case of glycogen storage disease type Ia with multiple hepatic adenomas and G727T mutation in the glucose-6-phosphatase gene, and a comparison with other mutations previously reported.
    Karasawa Y, Kobayashi M, Nakano Y, Aoki Y, Kawa S, Kiyosawa K, Seki H, Kawasaki S, Furihata K, Itoh N.
    Am J Gastroenterol; 1998 Sep; 93(9):1550-3. PubMed ID: 9732943
    [Abstract] [Full Text] [Related]

  • 22. Homogénéité mutationnelle de la glycogénose de type Ia en Tunisie.
    Cherif W, Rhouma FB, Chehida AB, Azzouz H, Monastiri K, Amri F, Chemli J, Kaabachi N, Abdelhak S, Tebib N, Dridi MF.
    Pathol Biol (Paris); 2011 Aug; 59(4):e93-6. PubMed ID: 19896294
    [Abstract] [Full Text] [Related]

  • 23. 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; 30(6):989. PubMed ID: 18008183
    [Abstract] [Full Text] [Related]

  • 24. Misdiagnosis as steatohepatitis in a family with mild glycogen storage disease type 1a.
    Shieh JJ, Lu YH, Huang SW, Huang YH, Sun CH, Chiou HJ, Liu C, Lo MY, Lin CY, Niu DM.
    Gene; 2012 Nov 01; 509(1):154-7. PubMed ID: 22909800
    [Abstract] [Full Text] [Related]

  • 25. 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 Nov 01; 46(3):146-9. PubMed ID: 11310582
    [Abstract] [Full Text] [Related]

  • 26. 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
    [Abstract] [Full Text] [Related]

  • 27. Glucose-6-phosphatase gene (727G-->T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type 1a.
    Lam CW, But WM, Shek CC, Tong SF, Chan YS, Choy KW, Tse WY, Pang CP, Hjelm NM.
    Clin Genet; 1998 Mar 15; 53(3):184-90. PubMed ID: 9630072
    [Abstract] [Full Text] [Related]

  • 28. Molecular analysis of glycogen storage disease type Ia in Iranian Azeri Turks: identification of a novel mutation.
    Mahmoud SK, Khorrami A, Rafeey M, Ghergherehchi R, Sima MD.
    J Genet; 2017 Mar 15; 96(1):19-23. PubMed ID: 28360385
    [Abstract] [Full Text] [Related]

  • 29. Glucose-6-phosphatase gene mutations in Taiwan Chinese patients with glycogen storage disease type Ia.
    Chiang SC, Lee YM, Chang MH, Wang TR, Ko TM, Hwu WL.
    J Hum Genet; 2000 Mar 15; 45(4):197-9. PubMed ID: 10944847
    [Abstract] [Full Text] [Related]

  • 30. 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 15; 16(1):89. PubMed ID: 10874313
    [Abstract] [Full Text] [Related]

  • 31. Efficacy of helper-dependent adenovirus vector-mediated gene therapy in murine glycogen storage disease type Ia.
    Koeberl DD, Sun B, Bird A, Chen YT, Oka K, Chan L.
    Mol Ther; 2007 Jul 15; 15(7):1253-8. PubMed ID: 17505475
    [Abstract] [Full Text] [Related]

  • 32. Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia.
    Koeberl DD, Sun BD, Damodaran TV, Brown T, Millington DS, Benjamin DK, Bird A, Schneider A, Hillman S, Jackson M, Beaty RM, Chen YT.
    Gene Ther; 2006 Sep 15; 13(17):1281-9. PubMed ID: 16672983
    [Abstract] [Full Text] [Related]

  • 33. 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 10; 511(1):122-4. PubMed ID: 23000067
    [Abstract] [Full Text] [Related]

  • 34. The molecular basis of type 1 glycogen storage diseases.
    Chou JY.
    Curr Mol Med; 2001 Mar 10; 1(1):25-44. PubMed ID: 11899241
    [Abstract] [Full Text] [Related]

  • 35. A case study of a liver transplant-treated patient with glycogen storage disease type Ia presenting with multiple inflammatory hepatic adenomas: an analysis of clinicopathologic and genetic data.
    Wang A, Wu J, Yuan X, Liu J, Lu C.
    BMC Med Genomics; 2024 May 06; 17(1):124. PubMed ID: 38711024
    [Abstract] [Full Text] [Related]

  • 36. Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control.
    Peeks F, Steunenberg TAH, de Boer F, Rubio-Gozalbo ME, Williams M, Burghard R, Rajas F, Oosterveer MH, Weinstein DA, Derks TGJ.
    J Inherit Metab Dis; 2017 Sep 06; 40(5):695-702. PubMed ID: 28397058
    [Abstract] [Full Text] [Related]

  • 37. 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 06; 161 Suppl 1():S56-61. PubMed ID: 12373573
    [Abstract] [Full Text] [Related]

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  • 39. Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.
    Rake JP, ten Berge AM, Visser G, Verlind E, Niezen-Koning KE, Buys CH, Smit GP, Scheffer H.
    Eur J Pediatr; 2000 May 06; 159(5):322-30. PubMed ID: 10834516
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