Permanent neonatal diabetes mellitus
Definition:
References:
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[1]. Anna L Gloyn, et al. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med. 2004 Apr 29;350(18):1838-49. [Content Brief]
[2]. Gabrielle S Sellick, et al. Mutations in PTF1A cause pancreatic and cerebellar agenesis. Nat Genet. 2004 Dec;36(12):1301-5. [Content Brief]
[3]. Julie Støy, et al. Insulin gene mutations as a cause of permanent neonatal diabetes. Proc Natl Acad Sci U S A. 2007 Sep 18;104(38):15040-4. [Content Brief]
[4]. Marc Nicolino, et al. A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency. Diabetes. 2010 Mar;59(3):733-40. [Content Brief]
[5]. Michel Polak, et al. Neonatal diabetes mellitus: a disease linked to multiple mechanisms. Orphanet J Rare Dis. 2007 Mar 9;2:12. [Content Brief]
[6]. Oscar Rubio-Cabezas, et al. Permanent neonatal diabetes mellitus--the importance of diabetes differential diagnosis in neonates and infants. Eur J Clin Invest. 2011 Mar;41(3):323-33. [Content Brief]
[7]. P R Njølstad, et al. Neonatal diabetes mellitus due to complete glucokinase deficiency. N Engl J Med. 2001 May 24;344(21):1588-92. [Content Brief]
[8]. Peter Proks, et al. A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. Hum Mol Genet. 2006 Jun 1;15(11):1793-800. [Content Brief]
[9]. Rosa Bacchetta, et al. Defective regulatory and effector T cell functions in patients with FOXP3 mutations. J Clin Invest. 2006 Jun;116(6):1713-22. [Content Brief]
[10]. Valérie Senée, et al. Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism. Nat Genet. 2006 Jun;38(6):682-7. [Content Brief]