255 related articles for article (PubMed ID: 10960498)
1. 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]
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. 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]
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. 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]
7. 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]
8. 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]
9. Historical highlights and unsolved problems in glycogen storage disease type 1.
Moses SW
Eur J Pediatr; 2002 Oct; 161 Suppl 1():S2-9. PubMed ID: 12373565
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Ontogeny of the murine glucose-6-phosphatase system.
Pan CJ; Lei KJ; Chen H; Ward JM; Chou JY
Arch Biochem Biophys; 1998 Oct; 358(1):17-24. PubMed ID: 9750160
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. New insights into the organisation and intracellular localisation of the two subunits of glucose-6-phosphatase.
Soty M; Chilloux J; Casteras S; Grichine A; Mithieux G; Gautier-Stein A
Biochimie; 2012 Mar; 94(3):695-703. PubMed ID: 21983240
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Glycogen storage disease type 1b due to a defect of glucose-6-phosphate translocase.
Narisawa K; Otomo H; Igarashi Y; Arai N; Otake M; Tada K; Kuzuya T
J Inherit Metab Dis; 1982; 5(4):227-8. PubMed ID: 6133035
[TBL] [Abstract][Full Text] [Related]
19. Molecular biology and gene therapy for glycogen storage disease type Ib.
Chou JY; Cho JH; Kim GY; Mansfield BC
J Inherit Metab Dis; 2018 Nov; 41(6):1007-1014. PubMed ID: 29663270
[TBL] [Abstract][Full Text] [Related]
20. [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]
[Next] [New Search]