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Successful transfer to sulfonylurea therapy in an infant with developmental delay, epilepsy and neonatal diabetes (DEND) syndrome and a novel ABCC8 gene mutation.

作者信息

Zwaveling-Soonawala N, Hagebeuk E E, Slingerland A S, Ris-Stalpers C, Vulsma T, van Trotsenburg A S

出版信息

Diabetologia. 2011 Feb;54(2):469-71. doi: 10.1007/s00125-010-1981-8. Epub 2010 Nov 26.

Abstract
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本文引用的文献

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Sulphonylurea therapy improves cognition in a patient with the V59M KCNJ11 mutation.
Diabet Med. 2008 Mar;25(3):277-81. doi: 10.1111/j.1464-5491.2007.02373.x.
2
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A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.
Neurology. 2007 Sep 25;69(13):1342-9. doi: 10.1212/01.wnl.0000268488.51776.53. Epub 2007 Jul 25.
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Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.
N Engl J Med. 2006 Aug 3;355(5):467-77. doi: 10.1056/NEJMoa061759.
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Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.
N Engl J Med. 2006 Aug 3;355(5):456-66. doi: 10.1056/NEJMoa055068.
7
A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.
Hum Mol Genet. 2006 Jun 1;15(11):1793-800. doi: 10.1093/hmg/ddl101. Epub 2006 Apr 13.
9
Transmembrane topology of the sulfonylurea receptor SUR1.
J Biol Chem. 2001 Nov 2;276(44):41270-8. doi: 10.1074/jbc.M106555200. Epub 2001 Aug 23.

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