139 related articles for article (PubMed ID: 33291009)
1. Generation of a human induced pluripotent stem cell line, BRCi009-A, derived from a patient with glycogen storage disease type 1a.
Katagami Y; Kondo T; Suga M; Yada Y; Imamura K; Shibukawa R; Sagara Y; Okanishi Y; Tsukita K; Hirayama K; Era T; Inoue H
Stem Cell Res; 2020 Dec; 49():102095. PubMed ID: 33291009
[TBL] [Abstract][Full Text] [Related]
2. A glycogen storage disease type 1a patient with type 2 diabetes.
Sun Y; Qiang W; Wu R; Yin T; Yuan J; Yuan J; Gu Y
BMC Med Genomics; 2022 Sep; 15(1):205. PubMed ID: 36167523
[TBL] [Abstract][Full Text] [Related]
3. A splice-switching oligonucleotide treatment ameliorates glycogen storage disease type 1a in mice with G6PC c.648G>T.
Ito K; Tajima G; Kamisato C; Tsumura M; Iwamoto M; Sekiguchi Y; Numata Y; Watanabe K; Yabe Y; Kanki S; Fujieda Y; Goto K; Sogawa Y; Oitate M; Nagase H; Tsuji S; Nishizawa T; Kakuta M; Masuda T; Onishi Y; Koizumi M; Nakamura H; Okada S; Matsuo M; Takaishi K
J Clin Invest; 2023 Dec; 133(23):. PubMed ID: 37788110
[TBL] [Abstract][Full Text] [Related]
4. Hepatic lentiviral gene transfer prevents the long-term onset of hepatic tumours of glycogen storage disease type 1a in mice.
Clar J; Mutel E; Gri B; Creneguy A; Stefanutti A; Gaillard S; Ferry N; Beuf O; Mithieux G; Nguyen TH; Rajas F
Hum Mol Genet; 2015 Apr; 24(8):2287-96. PubMed ID: 25561689
[TBL] [Abstract][Full Text] [Related]
5. Targeted deletion of liver glucose-6 phosphatase mimics glycogen storage disease type 1a including development of multiple adenomas.
Mutel E; Abdul-Wahed A; Ramamonjisoa N; Stefanutti A; Houberdon I; Cavassila S; Pilleul F; Beuf O; Gautier-Stein A; Penhoat A; Mithieux G; Rajas F
J Hepatol; 2011 Mar; 54(3):529-37. PubMed ID: 21109326
[TBL] [Abstract][Full Text] [Related]
6. Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia.
Abdul Wahab SA; Yakob Y; Mohd Khalid MKN; Ali N; Leong HY; Ngu LH
Genet Res (Camb); 2022; 2022():5870092. PubMed ID: 36160031
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Enzymatic characterization of four new mutations in the glucose-6 phosphatase (G6PC) gene which cause glycogen storage disease type 1a.
Bruni N; Rajas F; Montano S; Chevalier-Porst F; Maire I; Mithieux G
Ann Hum Genet; 1999 Mar; 63(Pt 2):141-6. PubMed ID: 10738525
[TBL] [Abstract][Full Text] [Related]
9. Hepatic Carbohydrate Response Element Binding Protein Activation Limits Nonalcoholic Fatty Liver Disease Development in a Mouse Model for Glycogen Storage Disease Type 1a.
Lei Y; Hoogerland JA; Bloks VW; Bos T; Bleeker A; Wolters H; Wolters JC; Hijmans BS; van Dijk TH; Thomas R; van Weeghel M; Mithieux G; Houtkooper RH; de Bruin A; Rajas F; Kuipers F; Oosterveer MH
Hepatology; 2020 Nov; 72(5):1638-1653. PubMed ID: 32083759
[TBL] [Abstract][Full Text] [Related]
10. Circulating exosomal microRNAs as potential biomarkers of hepatic injury and inflammation in a murine model of glycogen storage disease type 1a.
Resaz R; Cangelosi D; Morini M; Segalerba D; Mastracci L; Grillo F; Bosco MC; Bottino C; Colombo I; Eva A
Dis Model Mech; 2020 Sep; 13(9):. PubMed ID: 32620541
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Three novel mutations of the G6PC gene identified in Chinese patients with glycogen storage disease type Ia.
Zheng BX; Lin Q; Li M; Jin Y
Eur J Pediatr; 2015 Jan; 174(1):59-63. PubMed ID: 24980439
[TBL] [Abstract][Full Text] [Related]
13. Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia.
Kim YM; Choi JH; Lee BH; Kim GH; Kim KM; Yoo HW
Orphanet J Rare Dis; 2020 Feb; 15(1):45. PubMed ID: 32046761
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Case report: Hepatocellular carcinoma in type 1a glycogen storage disease with identification of a glucose-6-phosphatase gene mutation in one family.
Nakamura T; Ozawa T; Kawasaki T; Yasumi K; Wang DY; Kitagawa M; Takehira Y; Tamakoshi K; Yamada M; Kida H; Sugie H; Nakamura H; Sugimura H
J Gastroenterol Hepatol; 1999 Jun; 14(6):553-8. PubMed ID: 10385064
[TBL] [Abstract][Full Text] [Related]
16. Glucose-6-phosphatase gene mutations in 20 adult Japanese patients with glycogen storage disease type 1a with reference to hepatic tumors.
Nakamura T; Ozawa T; Kawasaki T; Nakamura H; Sugimura H
J Gastroenterol Hepatol; 2001 Dec; 16(12):1402-8. PubMed ID: 11851840
[TBL] [Abstract][Full Text] [Related]
17. G6PC mRNA Therapy Positively Regulates Fasting Blood Glucose and Decreases Liver Abnormalities in a Mouse Model of Glycogen Storage Disease 1a.
Roseman DS; Khan T; Rajas F; Jun LS; Asrani KH; Isaacs C; Farelli JD; Subramanian RR
Mol Ther; 2018 Mar; 26(3):814-821. PubMed ID: 29428299
[TBL] [Abstract][Full Text] [Related]
18. Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.
Chou JY; Mansfield BC
Hum Mutat; 2008 Jul; 29(7):921-30. PubMed ID: 18449899
[TBL] [Abstract][Full Text] [Related]
19. Targeted deletion of kidney glucose-6 phosphatase leads to nephropathy.
Clar J; Gri B; Calderaro J; Birling MC; Hérault Y; Smit GP; Mithieux G; Rajas F
Kidney Int; 2014 Oct; 86(4):747-56. PubMed ID: 24717294
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]