135 related articles for article (PubMed ID: 10094563)
1. Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220. Online.
Rake JP; ten Berge AM; Verlind E; Visser G; Niezen-Koning KE; Buys CH; Smit GP; Scheffer H
Hum Mutat; 1999; 13(2):173. PubMed ID: 10094563
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patients.
Trioche P; Francoual J; Chalas J; Capel L; Lindenbaum A; Odièvre M; Labrune P
Hum Mutat; 2000 Nov; 16(5):444. PubMed ID: 11058903
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia.
Stroppiano M; Regis S; DiRocco M; Caroli F; Gandullia P; Gatti R
J Inherit Metab Dis; 1999 Feb; 22(1):43-9. PubMed ID: 10070617
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia.
Ki CS; Han SH; Kim HJ; Lee SG; Kim EJ; Kim JW; Choe YH; Seo JK; Chang YJ; Park JY
Clin Genet; 2004 Jun; 65(6):487-9. PubMed ID: 15151508
[TBL] [Abstract][Full Text] [Related]
14. 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
[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. Identification of a novel nonsense mutation (Q24X) in the glucose-6-phosphatase gene of a Portuguese patient with GSD Ia (von Gierke disease).
Rocha H; Cabral A; Vilarinho L
Hum Mutat; 2000 Nov; 16(5):449. PubMed ID: 11058918
[No Abstract] [Full Text] [Related]
17. Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia. Mutation in brief no. 256. Online.
Trioche P; Francoual J; Chalas J; Capel L; Bernard O; Labrune P
Hum Mutat; 1999; 14(1):91. PubMed ID: 10447271
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Sustained hepatic and renal glucose-6-phosphatase expression corrects glycogen storage disease type Ia in mice.
Sun MS; Pan CJ; Shieh JJ; Ghosh A; Chen LY; Mansfield BC; Ward JM; Byrne BJ; Chou JY
Hum Mol Genet; 2002 Sep; 11(18):2155-64. PubMed ID: 12189168
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
