Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 68

1.

A novel activating ABCC8 mutation underlying neonatal diabetes mellitus in an infant presenting with cerebral sinovenous thrombosis.

Anık A, Catlı G, Abacı A, Yiş U, Oren H, Güleryüz H, Kızıldağ S, Böber E.

J Pediatr Endocrinol Metab. 2014 May;27(5-6):533-7. doi: 10.1515/jpem-2013-0263.

PMID:
24468609
2.

A successful transition to sulfonylurea treatment in male infant with neonatal diabetes caused by the novel abcc8 gene mutation and three years follow-up.

Katanic D, Vorgučin I, Hattersley A, Ellard S, Houghton JAL, Obreht D, Knežević Pogančev M, Vlaški J, Pavkov D.

Diabetes Res Clin Pract. 2017 Jul;129:59-61. doi: 10.1016/j.diabres.2017.04.021. Epub 2017 May 3.

3.

Successful transition to sulfonylurea therapy in two Iraqi siblings with neonatal diabetes mellitus and iDEND syndrome due to ABCC8 mutation.

Ozsu E, Giri D, Seymen Karabulut G, Senniappan S.

J Pediatr Endocrinol Metab. 2016 Dec 1;29(12):1403-1406. doi: 10.1515/jpem-2016-0149.

PMID:
27849623
4.

Unsuccessful switch from insulin to sulfonylurea therapy in permanent neonatal diabetes mellitus due to an R201H mutation in the KCNJ11 gene: a case report.

Heo JW, Kim SW, Cho EH.

Diabetes Res Clin Pract. 2013 Apr;100(1):e1-2. doi: 10.1016/j.diabres.2013.01.016. Epub 2013 Feb 21.

PMID:
23434183
5.

Transient neonatal diabetes due to activating mutation in the ABCC8 gene encoding SUR1.

Batra CM, Gupta N, Atwal G, Gupta V.

Indian J Pediatr. 2009 Nov;76(11):1169-72.

PMID:
20092027
6.

Outpatient transition of an infant with permanent neonatal diabetes due to a KCNJ11 activating mutation from subcutaneous insulin to oral glyburide.

Bremer AA, Ranadive S, Lustig RH.

Pediatr Diabetes. 2008 Jun;9(3 Pt 1):236-9. doi: 10.1111/j.1399-5448.2007.00316.x. Epub 2008 Jan 24.

PMID:
18221420
7.

Successful transfer from insulin to oral sulfonylurea in a 3-year-old girl with a mutation in the KCNJ11 gene.

Al-Mahdi M, Al Mutair A, Al Balwi M, Hussain K.

Ann Saudi Med. 2010 Mar-Apr;30(2):162-4. doi: 10.4103/0256-4947.60526. Erratum in: Ann Saudi Med. 2010 May-Jun;30(3):242.

8.

Activating mutations in the KCNJ11 gene encoding the ATP-sensitive K+ channel subunit Kir6.2 are rare in clinically defined type 1 diabetes diagnosed before 2 years.

Edghill EL, Gloyn AL, Gillespie KM, Lambert AP, Raymond NT, Swift PG, Ellard S, Gale EA, Hattersley AT.

Diabetes. 2004 Nov;53(11):2998-3001.

9.

[From gene to disease; neonatal diabetes mellitus and the KCNJ11 gene].

Slingerland AS, Bruining GJ.

Ned Tijdschr Geneeskd. 2005 Dec 3;149(49):2732-6. Review. Dutch.

PMID:
16375017
10.

[Diabetes in infants may be treated with sulfonylurea as a replacement for insulin].

Lauridsen MH, Boesgaard TW, Pedersen OB, Hansen T, Hertz B.

Ugeskr Laeger. 2009 Jun 1;171(23):1923-4. Danish.

PMID:
19500515
11.
12.

Permanent neonatal diabetes mellitus due to an ABCC8 mutation: a case report.

Abraham N, Ahamed A, Unnikrishnan AG, Kumar H, Ellard S.

JOP. 2014 Mar 10;15(2):198-200. doi: 10.6092/1590-8577/1947.

13.

Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment.

Globa E, Zelinska N, Mackay DJ, Temple KI, Houghton JA, Hattersley AT, Flanagan SE, Ellard S.

J Pediatr Endocrinol Metab. 2015 Nov 1;28(11-12):1279-86. doi: 10.1515/jpem-2015-0170.

14.

Novel mutation c.597_598dup in exon 5 of ABCC8 gene causing congenital hyperinsulinism.

Jindal R, Ahmad A, Siddiqui MA, Kochar IS, Wangnoo SK.

Diabetes Metab Syndr. 2014 Jan-Mar;8(1):45-7. doi: 10.1016/j.dsx.2013.02.018. Epub 2013 Mar 26.

PMID:
24661758
15.

Neonatal Diabetes: Case Report of a 9-Week-Old Presenting Diabetic Ketoacidosis Due to an Activating ABCC8 Gene Mutation.

Sood S, Landreth H, Bustinza J, Chalmers L, Thukaram R.

J Investig Med High Impact Case Rep. 2017 Mar 24;5(1):2324709617698718. doi: 10.1177/2324709617698718. eCollection 2017 Jan-Mar.

16.

Sulfonylurea treatment before genetic testing in neonatal diabetes: pros and cons.

Carmody D, Bell CD, Hwang JL, Dickens JT, Sima DI, Felipe DL, Zimmer CA, Davis AO, Kotlyarevska K, Naylor RN, Philipson LH, Greeley SA.

J Clin Endocrinol Metab. 2014 Dec;99(12):E2709-14. doi: 10.1210/jc.2014-2494.

17.

Successful sulfonylurea treatment of a neonate with neonatal diabetes mellitus due to a new KCNJ11 mutation.

Ješić MM, Ješić MD, Maglajlić S, Sajić S, Necić S.

Diabetes Res Clin Pract. 2011 Jan;91(1):e1-3. doi: 10.1016/j.diabres.2010.09.027. Epub 2010 Nov 5.

PMID:
21056492
18.

KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.

Massa O, Iafusco D, D'Amato E, Gloyn AL, Hattersley AT, Pasquino B, Tonini G, Dammacco F, Zanette G, Meschi F, Porzio O, Bottazzo G, Crinó A, Lorini R, Cerutti F, Vanelli M, Barbetti F; Early Onset Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetology.

Hum Mutat. 2005 Jan;25(1):22-7.

PMID:
15580558
19.

KCNJ11 activating mutations cause both transient and permanent neonatal diabetes mellitus in Cypriot patients.

Ioannou YS, Ellard S, Hattersley A, Skordis N.

Pediatr Diabetes. 2011 Mar;12(2):133-7. doi: 10.1111/j.1399-5448.2010.00743.x.

PMID:
21352428
20.

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.

Gloyn AL, Pearson ER, Antcliff JF, Proks P, Bruining GJ, Slingerland AS, Howard N, Srinivasan S, Silva JM, Molnes J, Edghill EL, Frayling TM, Temple IK, Mackay D, Shield JP, Sumnik Z, van Rhijn A, Wales JK, Clark P, Gorman S, Aisenberg J, Ellard S, Njølstad PR, Ashcroft FM, Hattersley AT.

N Engl J Med. 2004 Apr 29;350(18):1838-49. Erratum in: N Engl J Med. 2004 Sep 30;351(14):1470.

Supplemental Content

Support Center