260 related articles for article (PubMed ID: 9758626)
1. 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]
2. 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]
3. 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]
4. 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]
5. Structure and mutation analysis of the glycogen storage disease type 1b gene.
Marcolongo P; Barone V; Priori G; Pirola B; Giglio S; Biasucci G; Zammarchi E; Parenti G; Burchell A; Benedetti A; Sorrentino V
FEBS Lett; 1998 Oct; 436(2):247-50. PubMed ID: 9781688
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Molecular diagnosis of type 1c glycogen storage disease.
Janecke AR; Bosshard NU; Mayatepek E; Schulze A; Gitzelmann R; Burchell A; Bartram CR; Janssen B
Hum Genet; 1999 Mar; 104(3):275-7. PubMed ID: 10323254
[TBL] [Abstract][Full Text] [Related]
9. Type I glycogen storage diseases: disorders of the glucose-6-phosphatase/glucose-6-phosphate transporter complexes.
Chou JY; Jun HS; Mansfield BC
J Inherit Metab Dis; 2015 May; 38(3):511-9. PubMed ID: 25288127
[TBL] [Abstract][Full Text] [Related]
10. Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b.
Hiraiwa H; Pan CJ; Lin B; Moses SW; Chou JY
J Biol Chem; 1999 Feb; 274(9):5532-6. PubMed ID: 10026167
[TBL] [Abstract][Full Text] [Related]
11. The signature motif in human glucose-6-phosphate transporter is essential for microsomal transport of glucose-6-phosphate.
Pan CJ; Chen LY; Mansfield BC; Salani B; Varesio L; Chou JY
Hum Genet; 2003 Apr; 112(4):430-3. PubMed ID: 12560945
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. The glucose-6-phosphate transporter is a phosphate-linked antiporter deficient in glycogen storage disease type Ib and Ic.
Chen SY; Pan CJ; Nandigama K; Mansfield BC; Ambudkar SV; Chou JY
FASEB J; 2008 Jul; 22(7):2206-13. PubMed ID: 18337460
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. Structure-function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib.
Chen LY; Pan CJ; Shieh JJ; Chou JY
Hum Mol Genet; 2002 Dec; 11(25):3199-207. PubMed ID: 12444104
[TBL] [Abstract][Full Text] [Related]
18. Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c.
Galli L; Orrico A; Marcolongo P; Fulceri R; Burchell A; Melis D; Parini R; Gatti R; Lam C; Benedetti A; Sorrentino V
FEBS Lett; 1999 Oct; 459(2):255-8. PubMed ID: 10518030
[TBL] [Abstract][Full Text] [Related]
19. Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.
Gerin I; Veiga-da-Cunha M; Achouri Y; Collet JF; Van Schaftingen E
FEBS Lett; 1997 Dec; 419(2-3):235-8. PubMed ID: 9428641
[TBL] [Abstract][Full Text] [Related]
20. 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; 159(5):322-30. PubMed ID: 10834516
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]