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Results: 1 to 20 of 128

Similar articles for PubMed (Select 10874322)

1.

A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b.

Lam CW, Chan KY, Tong SF, Chan BY, Chan YT, Chan YW.

Hum Mutat. 2000 Jul;16(1):94. No abstract available.

PMID:
10874322
2.

A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b.

Han SH, Ki CS, Lee JE, Hong YJ, Son BK, Lee KH, Choe YH, Lee SY, Kim JW.

J Korean Med Sci. 2005 Jun;20(3):499-501.

3.

Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b.

Yuen YP, Cheng WF, Tong SF, Chan YT, Chan YW, Lam CW.

Mol Genet Metab. 2002 Nov;77(3):249-51.

PMID:
12409273
4.
5.

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.

PMID:
6133035
6.

A novel missense mutation (H119L) identified in a Taiwan Chinese family with glycogen storage disease Ia (Von Gierke disease).

Wu MC, Tsai FJ, Lee CC, Tsai CH, Wu JY.

Hum Mutat. 2000 Nov;16(5):447. No abstract available.

PMID:
11058910
7.

Molecular genetics of type 1 glycogen storage disease.

Janecke AR, Mayatepek E, Utermann G.

Mol Genet Metab. 2001 Jun;73(2):117-25. Review.

PMID:
11386847
8.

A direct method for the diagnosis of human hepatic type 1b and type 1c glycogen-storage disease.

Waddell ID, Hume R, Burchell A.

Clin Sci (Lond). 1989 Jun;76(6):573-9.

PMID:
2544342
9.
10.

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 20;248(2):426-31.

PMID:
9675154
12.

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.

PMID:
10323254
13.
14.

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 2;436(2):247-50. Erratum in: FEBS Lett 1999 Feb 26;445(2-3):451.

15.

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.

16.

[Glucose-6-phosphate translocase deficiency--glycogen storage disease type 1 b].

Narisawa K.

Tanpakushitsu Kakusan Koso. 1988 Apr;33(5):813-6. Japanese. No abstract available.

PMID:
2855954
17.

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. Epub 2003 Jan 31.

PMID:
12560945
18.

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.

19.
20.

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 26;274(9):5532-6.

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