［1］Hamilton-Shield JP. Overview of neonatal diabetes［J］. Endocr Dev, 2007, 12:12-23.

［2］任倩，纪立农. 新生儿糖尿病的遗传学特征及诊疗进展［J］. 中国糖尿病杂志，2009, 17(9):711-712.

［3］Aguilar-Bryan L, Bryan J. Neonatal diabetes mellitus［J］. Endocr Rev, 2008, 29(3): 265-291.

［4］Rubio-Cabezas O, Klupa T, Malecki MT. Permanent neonatal diabetes mellitus-the importance of diabetes differential diagnosis in neonates and infants［J］. Eur J Clin Invest, 2011, 41(3): 323-333.

［5］Wiedemann B, Schober E, Waldhoer T, Koehle J, Flanagan SE, Mackay DJ, et al. Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register［J］. Pediatr Diabetes, 2010, 11(1): 18-23.

［6］Suzuki S, Makita Y, Mukai T, Matsuo K, Ueda O, Fujieda K. Molecular basis of neonatal diabetes in Japanese patients［J］. J Clin Endocrinol Metab, 2007, 92(10): 3979-3985.

［7］胡海英. 新生儿糖尿病［J］. 国外医学(内分泌学分册), 2004，24(1):41-43.

［8］Flanagan SE, Edghill EL, Gloyn AL, Ellard S, Hattersley AT. Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype［J］. Diabetologia, 2006, 49(6): 1190-1197.

［9］Flanagan SE, Patch AM, Mackay DJ, Edghill EL, Gloyn AL, Robinson D, et al. Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood［J］. Diabetes, 2007, 56(7): 1930-1937.

［10］Letha S, Mammen D, Valamparampil JJ. Permanent neonatal diabetes due to KCNJ11 gene mutation［J］. Indian J Pediatr, 2007, 74(10): 947-949.

［11］Laborie LB, Mackay DJ, Temple IK, Molven A, S-vik O, Nj-lstad PR. DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins［J］. Eur J Pediatr, 2010, 169(2): 207-213.

［12］Shimomura K, Horster F, de Wet H, Flanagan SE, Ellard S, Hattersley AT, et al. A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain［J］.  Neurology, 2007, 69(13): 1342-1349.

［13］Hattersley AT, Ashcroft FM. Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy［J］. Diabetes, 2005, 54(9):2503-2513.

［14］Stoffers DA, Zinkin NT, Stanojevic V, Clarke WL, Habener JF. Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence［J］. Nat Genet, 1997, 15(1): 106-110.

［15］Gambineri E, Torgerson TR, Ochs HD. Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis［J］. Curr Opin Rheumatol, 2003, 15(4): 430-435.

［16］Yoo HW, Shin YL, Seo EJ, Kim GH. Identification of a novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome presenting with neonatal diabetes mellitus and galactosaemia［J］. Eur J Pediatr, 2002, 161(6): 351-353.

［17］Senée V, Vattem KM, Delépine M, Rainbow LA, Haton C, Lecoq A, et al. Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity［J］. Diabetes, 2004, 53(7): 1876-1883.

［18］Rubio-Cabezas O, Patch AM, Minton JA, Flanagan SE, Edghill EL, Hussain K, et al. Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families［J］. J Clin Endocrinol Metab, 2009, 94(11): 4162-4170.

［19］Senée V, Vattem KM, Delépine M, Rainbow LA, Haton C, Lecoq A, et al. Wolcott-Rallison syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity［J］. Diabetes, 2004, 53(7): 1876-1883.

［20］Pearson ER, Flechtner I, Nj-lstad PR, Malecki MT, Flanagan SE, Larkin B, et al. Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations［J］. N Engl J Med, 2006, 355(5): 467-477.