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Items: 1 to 20 of 81

1.

Familial hyperinsulinism caused by an activating glucokinase mutation.

Glaser B, Kesavan P, Heyman M, Davis E, Cuesta A, Buchs A, Stanley CA, Thornton PS, Permutt MA, Matschinsky FM, Herold KC.

N Engl J Med. 1998 Jan 22;338(4):226-30. No abstract available.

2.

Diagnostic difficulties in glucokinase hyperinsulinism.

Meissner T, Marquard J, Cobo-Vuilleumier N, Maringa M, Rodríguez-Bada P, García-Gimeno MA, Baixeras E, Weber J, Olek K, Sanz P, Mayatepek E, Cuesta-Muñoz AL.

Horm Metab Res. 2009 Apr;41(4):320-6. doi: 10.1055/s-0028-1102922. Epub 2008 Dec 3.

PMID:
19053014
3.

Extremes of clinical and enzymatic phenotypes in children with hyperinsulinism caused by glucokinase activating mutations.

Sayed S, Langdon DR, Odili S, Chen P, Buettger C, Schiffman AB, Suchi M, Taub R, Grimsby J, Matschinsky FM, Stanley CA.

Diabetes. 2009 Jun;58(6):1419-27. doi: 10.2337/db08-1792. Epub 2009 Mar 31.

4.

Familial adult onset hyperinsulinism due to an activating glucokinase mutation: implications for pharmacological glucokinase activation.

Challis BG, Harris J, Sleigh A, Isaac I, Orme SM, Seevaratnam N, Dhatariya K, Simpson HL, Semple RK.

Clin Endocrinol (Oxf). 2014 Dec;81(6):855-61. doi: 10.1111/cen.12517. Epub 2014 Jul 2.

5.

Congenital hyperinsulinism caused by hexokinase I expression or glucokinase-activating mutation in a subset of β-cells.

Henquin JC, Sempoux C, Marchandise J, Godecharles S, Guiot Y, Nenquin M, Rahier J.

Diabetes. 2013 May;62(5):1689-96. doi: 10.2337/db12-1414. Epub 2012 Dec 28.

6.

Non-insulinoma persistent hyperinsulinaemic hypoglycaemia caused by an activating glucokinase mutation: hypoglycaemia unawareness and attacks.

Christesen HB, Brusgaard K, Beck Nielsen H, Brock Jacobsen B.

Clin Endocrinol (Oxf). 2008 May;68(5):747-55. doi: 10.1111/j.1365-2265.2008.03184.x. Epub 2008 Jan 15. Erratum in: Clin Endocrinol (Oxf). 2008 Jun;68(6):1011.

PMID:
18208578
7.

Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway.

Njølstad PR, Sagen JV, Bjørkhaug L, Odili S, Shehadeh N, Bakry D, Sarici SU, Alpay F, Molnes J, Molven A, Søvik O, Matschinsky FM.

Diabetes. 2003 Nov;52(11):2854-60.

8.

Congenital hyperinsulinism: molecular basis of a heterogeneous disease.

Meissner T, Beinbrech B, Mayatepek E.

Hum Mutat. 1999;13(5):351-61. Review.

PMID:
10338089
9.

Linkage analysis of the glucokinase locus in familial type 2 (non-insulin-dependent) diabetic pedigrees.

Elbein SC, Hoffman M, Chiu K, Tanizawa Y, Permutt MA.

Diabetologia. 1993 Feb;36(2):141-5.

PMID:
8458527
10.

Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation.

Cuesta-Muñoz AL, Huopio H, Otonkoski T, Gomez-Zumaquero JM, Näntö-Salonen K, Rahier J, López-Enriquez S, García-Gimeno MA, Sanz P, Soriguer FC, Laakso M.

Diabetes. 2004 Aug;53(8):2164-8.

11.

Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with hyperinsulinism: a novel glucose-fatty acid cycle?

Eaton S, Chatziandreou I, Krywawych S, Pen S, Clayton PT, Hussain K.

Biochem Soc Trans. 2003 Dec;31(Pt 6):1137-9. Review.

PMID:
14641012
12.

Dominantly inherited hyperinsulinaemic hypoglycaemia.

de Lonlay P, Giurgea I, Sempoux C, Touati G, Jaubert F, Rahier J, Ribeiro M, Brunelle F, Nihoul-Fékété C, Robert JJ, Saudubray JM, Stanley C, Bellanné-Chantelot C.

J Inherit Metab Dis. 2005;28(3):267-76. Review.

PMID:
15868462
13.

Hyperinsulinism of the newborn.

Glaser B.

Semin Perinatol. 2000 Apr;24(2):150-63. Review.

PMID:
10805170
14.

Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor.

Thornton PS, MacMullen C, Ganguly A, Ruchelli E, Steinkrauss L, Crane A, Aguilar-Bryan L, Stanley CA.

Diabetes. 2003 Sep;52(9):2403-10.

15.

Compensation in pancreatic beta-cell function in subjects with glucokinase mutations.

Sturis J, Kurland IJ, Byrne MM, Mosekilde E, Froguel P, Pilkis SJ, Bell GI, Polonsky KS.

Diabetes. 1994 May;43(5):718-23.

PMID:
8168650
16.

Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation.

Molven A, Matre GE, Duran M, Wanders RJ, Rishaug U, Njølstad PR, Jellum E, Søvik O.

Diabetes. 2004 Jan;53(1):221-7.

17.

Glucokinase, the pancreatic glucose sensor, is not the gut glucose sensor.

Murphy R, Tura A, Clark PM, Holst JJ, Mari A, Hattersley AT.

Diabetologia. 2009 Jan;52(1):154-9. doi: 10.1007/s00125-008-1183-9. Epub 2008 Oct 31.

PMID:
18974968
18.

Counterregulatory responses to hypoglycemia in patients with glucokinase gene mutations.

Guenat E, Seematter G, Philippe J, Temler E, Jequier E, Tappy L.

Diabetes Metab. 2000 Nov;26(5):377-84.

PMID:
11119017
19.

Candidate gene studies in pedigrees with maturity-onset diabetes of the young not linked with glucokinase.

Zhang Y, Warren-Perry M, Saker PJ, Hattersley AT, Mackie AD, Baird JD, Greenwood RH, Stoffel M, Bell GI, Turner RC.

Diabetologia. 1995 Sep;38(9):1055-60.

PMID:
8591819
20.

Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus.

Vionnet N, Stoffel M, Takeda J, Yasuda K, Bell GI, Zouali H, Lesage S, Velho G, Iris F, Passa P, et al.

Nature. 1992 Apr 23;356(6371):721-2.

PMID:
1570017

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