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Items: 1 to 20 of 172

1.

Permanent neonatal diabetes caused by a homozygous nonsense mutation in the glucokinase gene.

Rubio-Cabezas O, Díaz González F, Aragonés A, Argente J, Campos-Barros A.

Pediatr Diabetes. 2008 Jun;9(3 Pt 1):245-9. doi: 10.1111/j.1399-5448.2007.00361.x. Epub 2008 Feb 21.

PMID:
18298419
2.

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.

3.

Four novel cases of permanent neonatal diabetes mellitus caused by homozygous mutations in the glucokinase gene.

Bennett K, James C, Mutair A, Al-Shaikh H, Sinani A, Hussain K.

Pediatr Diabetes. 2011 May;12(3 Pt 1):192-6. doi: 10.1111/j.1399-5448.2010.00683.x. Epub 2010 Sep 6.

PMID:
21518409
4.

Permanent neonatal diabetes in an Asian infant.

Porter JR, Shaw NJ, Barrett TG, Hattersley AT, Ellard S, Gloyn AL.

J Pediatr. 2005 Jan;146(1):131-3. Review.

PMID:
15644838
6.

Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy.

Turkkahraman D, Bircan I, Tribble ND, Akçurin S, Ellard S, Gloyn AL.

J Pediatr. 2008 Jul;153(1):122-6. doi: 10.1016/j.jpeds.2007.12.037. Epub 2008 Mar 6.

PMID:
18571549
7.

[Glucokinase gene mutation as a causative factor of permanent neonatal diabetes mellitus].

Wajda-Cuszlag M, Witkowski D, Piontek E, Wysocka-Mincewicz M, Borowiec M, Młynarski W, Szalecki M.

Pediatr Endocrinol Diabetes Metab. 2012;18(1):45-7. Polish.

PMID:
22525692
8.

Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (Neonatal Diabetes) Study Group.

Polak M, Dechaume A, Cavé H, Nimri R, Crosnier H, Sulmont V, de Kerdanet M, Scharfmann R, Lebenthal Y, Froguel P, Vaxillaire M; French ND (Neonatal Diabetes) Study Group.

Diabetes. 2008 Apr;57(4):1115-9. doi: 10.2337/db07-1358. Epub 2008 Jan 2.

9.

Impact of Type 2 diabetes on Glucokinase diabetes (GCK-MODY) phenotype in a Roma (Gypsy) family - case report.

Stanik J, Kusekova M, Huckova M, Valentinova L, Masindova I, Stanikova D, Ferenczova J, Gasperikova D, Klimes I.

Endocr Regul. 2012 Apr;46(2):99-105.

PMID:
22540858
10.

The long-term impact on offspring of exposure to hyperglycaemia in utero due to maternal glucokinase gene mutations.

Singh R, Pearson ER, Clark PM, Hattersley AT.

Diabetologia. 2007 Mar;50(3):620-4. Epub 2007 Jan 10.

PMID:
17216282
11.

An infant with combination gene mutations for Monogenic Diabetes of Youth (MODY) 2 and 4, presenting with Diabetes Mellitus Requiring Insulin (DMRI) at 8 months of age.

Odem J, Munzinger E, Violand S, Van Morlan A, Rife D, Bachrach B.

Pediatr Diabetes. 2009 Dec;10(8):550-3. doi: 10.1111/j.1399-5448.2009.00515.x. Epub 2009 Jun 10.

PMID:
19515026
12.

The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy.

Christesen HB, Jacobsen BB, Odili S, Buettger C, Cuesta-Munoz A, Hansen T, Brusgaard K, Massa O, Magnuson MA, Shiota C, Matschinsky FM, Barbetti F.

Diabetes. 2002 Apr;51(4):1240-6.

13.

[Long-term follow-up of permanent neonatal diabetes in Tunisian infant].

Ben Hamouda H, Chioukh F, Boussetta B, Mahjoub B, Ayadi A, Belkhir Y, Boussoffara R, Soua H, Sfar MT.

Ann Endocrinol (Paris). 2010 Sep;71(4):314-9. doi: 10.1016/j.ando.2009.12.014. Epub 2010 Jun 15. French.

PMID:
20554266
14.

Insight into the biochemical characteristics of a novel glucokinase gene mutation.

Shen Y, Cai M, Liang H, Wang H, Weng J.

Hum Genet. 2011 Mar;129(3):231-8. doi: 10.1007/s00439-010-0914-4. Epub 2010 Nov 23.

PMID:
21104275
15.

Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young.

Gloyn AL, Odili S, Zelent D, Buettger C, Castleden HA, Steele AM, Stride A, Shiota C, Magnuson MA, Lorini R, d'Annunzio G, Stanley CA, Kwagh J, van Schaftingen E, Veiga-da-Cunha M, Barbetti F, Dunten P, Han Y, Grimsby J, Taub R, Ellard S, Hattersley AT, Matschinsky FM.

J Biol Chem. 2005 Apr 8;280(14):14105-13. Epub 2005 Jan 25.

16.

Phenotype variability and neonatal diabetes in a large family with heterozygous mutation of the glucokinase gene.

Borowiec M, Mysliwiec M, Fendler W, Antosik K, Brandt A, Malecki M, Mlynarski W.

Acta Diabetol. 2011 Sep;48(3):203-8. doi: 10.1007/s00592-011-0279-8. Epub 2011 Mar 25.

17.

[Insulin-dependent neonatal and infant diabetes: genetics and physiopathology].

Diatloff-Zito C, Marquis E.

Pathol Biol (Paris). 2002 May;50(4):233-42. French.

PMID:
12085668
18.

Aetiological heterogeneity of asymptomatic hyperglycaemia in children and adolescents.

Feigerlová E, Pruhová S, Dittertová L, Lebl J, Pinterová D, Kolostová K, Cerná M, Pedersen O, Hansen T.

Eur J Pediatr. 2006 Jul;165(7):446-52. Epub 2006 Apr 7.

PMID:
16602010
19.

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
20.

Clinical characteristics of mutation carriers in a large family with glucokinase diabetes (MODY2).

Shehadeh N, Bakri D, Njølstad PR, Gershoni-Baruch R.

Diabet Med. 2005 Aug;22(8):994-8.

PMID:
16026363
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