PubMed

Dysregulation of insulin secretion in children with congenital hyperinsulinism due to sulfonylurea receptor mutations.

Grimberg A, Ferry RJ Jr, Kelly A, Koo-McCoy S, Polonsky K, Glaser B, Permutt MA, Aguilar-Bryan L, Stafford D, Thornton PS, Baker L, Stanley CA.

Diabetes. 2001 Feb;50(2):322-8.PMID: 11272143 [PubMed - indexed for MEDLINE]Related articlesFree article

Carriers of an inactivating beta-cell ATP-sensitive K(+) channel mutation have normal glucose tolerance and insulin sensitivity and appropriate insulin secretion.

Huopio H, Vauhkonen I, Komulainen J, Niskanen L, Otonkoski T, Laakso M.

Diabetes Care. 2002 Jan;25(1):101-6.PMID: 11772909 [PubMed - indexed for MEDLINE]Related articlesFree article

Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor.

Thornton PS, MacMullen C, Ganguly A, Ruchelli E, Steinkrauss L, Crane A, Aguilar-Bryan L, Stanley CA.

Diabetes. 2003 Sep;52(9):2403-10.PMID: 12941782 [PubMed - indexed for MEDLINE]Related articlesFree article

Calcium-stimulated insulin secretion in diffuse and focal forms of congenital hyperinsulinism.

Ferry RJ Jr, Kelly A, Grimberg A, Koo-McCoy S, Shapiro MJ, Fellows KE, Glaser B, Aguilar-Bryan L, Stafford DE, Stanley CA.

J Pediatr. 2000 Aug;137(2):239-46.PMID: 10931418 [PubMed - indexed for MEDLINE]Related articles

Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1.

Huopio H, Reimann F, Ashfield R, Komulainen J, Lenko HL, Rahier J, Vauhkonen I, Kere J, Laakso M, Ashcroft F, Otonkoski T.

J Clin Invest. 2000 Oct;106(7):897-906.PMID: 11018078 [PubMed - indexed for MEDLINE]Related articlesFree article

Suppression of insulin oversecretion by subcutaneous recombinant human insulin-like growth factor I in children with congenital hyperinsulinism due to defective beta-cell sulfonylurea receptor.

Katz LE, Ferry RJ Jr, Stanley CA, Collett-Solberg PF, Baker L, Cohen P.

J Clin Endocrinol Metab. 1999 Sep;84(9):3117-24.PMID: 10487673 [PubMed - indexed for MEDLINE]Related articlesFree article

Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes.

Henwood MJ, Kelly A, Macmullen C, Bhatia P, Ganguly A, Thornton PS, Stanley CA.

J Clin Endocrinol Metab. 2005 Feb;90(2):789-94. Epub 2004 Nov 23.PMID: 15562009 [PubMed - indexed for MEDLINE]Related articlesFree article

Hyperinsulinism of infancy: the regulated release of insulin by KATP channel-independent pathways.

Straub SG, Cosgrove KE, Ammälä C, Shepherd RM, O'Brien RE, Barnes PD, Kuchinski N, Chapman JC, Schaeppi M, Glaser B, Lindley KJ, Sharp GW, Aynsley-Green A, Dunne MJ.

Diabetes. 2001 Feb;50(2):329-39.PMID: 11272144 [PubMed - indexed for MEDLINE]Related articlesFree article

Congenital hyperinsulinism associated ABCC8 mutations that cause defective trafficking of ATP-sensitive K+ channels: identification and rescue.

Yan FF, Lin YW, MacMullen C, Ganguly A, Stanley CA, Shyng SL.

Diabetes. 2007 Sep;56(9):2339-48. Epub 2007 Jun 15.PMID: 17575084 [PubMed - indexed for MEDLINE]Related articlesFree article

ABCC8 (SUR1) and KCNJ11 (KIR6.2) mutations in persistent hyperinsulinemic hypoglycemia of infancy and evaluation of different therapeutic measures.

Darendeliler F, Fournet JC, Baş F, Junien C, Gross MS, Bundak R, Saka N, Günöz H.

J Pediatr Endocrinol Metab. 2002 Jul-Aug;15(7):993-1000.PMID: 12199344 [PubMed - indexed for MEDLINE]Related articles

Preoperative evaluation of infants with focal or diffuse congenital hyperinsulinism by intravenous acute insulin response tests and selective pancreatic arterial calcium stimulation.

Stanley CA, Thornton PS, Ganguly A, MacMullen C, Underwood P, Bhatia P, Steinkrauss L, Wanner L, Kaye R, Ruchelli E, Suchi M, Adzick NS.

J Clin Endocrinol Metab. 2004 Jan;89(1):288-96. Erratum in: J Clin Endocrinol Metab. 2005 Jan;90(1):189. PMID: 14715863 [PubMed - indexed for MEDLINE]Related articlesFree article

Serum glucagon counterregulatory hormonal response to hypoglycemia is blunted in congenital hyperinsulinism.

Hussain K, Bryan J, Christesen HT, Brusgaard K, Aguilar-Bryan L.

Diabetes. 2005 Oct;54(10):2946-51.PMID: 16186397 [PubMed - indexed for MEDLINE]Related articlesFree article

Compound heterozygosity for the common sulfonylurea receptor mutations can cause mild diazoxide-sensitive hyperinsulinism.

Dekel B, Lubin D, Modan-Moses D, Quint J, Glaser B, Meyerovitch J.

Clin Pediatr (Phila). 2002 Apr;41(3):183-6.PMID: 11999683 [PubMed - indexed for MEDLINE]Related articles

Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations.

Pinney SE, MacMullen C, Becker S, Lin YW, Hanna C, Thornton P, Ganguly A, Shyng SL, Stanley CA.

J Clin Invest. 2008 Aug;118(8):2877-86.PMID: 18596924 [PubMed - indexed for MEDLINE]Related articlesFree article

Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.

Pearson ER, Flechtner I, Njølstad PR, Malecki MT, Flanagan SE, Larkin B, Ashcroft FM, Klimes I, Codner E, Iotova V, Slingerland AS, Shield J, Robert JJ, Holst JJ, Clark PM, Ellard S, Søvik O, Polak M, Hattersley AT; Neonatal Diabetes International Collaborative Group.

N Engl J Med. 2006 Aug 3;355(5):467-77.PMID: 16885550 [PubMed - indexed for MEDLINE]Related articlesFree article

Sulfonylurea receptor 1 mutations that cause opposite insulin secretion defects with chemical chaperone exposure.

Pratt EB, Yan FF, Gay JW, Stanley CA, Shyng SL.

J Biol Chem. 2009 Mar 20;284(12):7951-9. Epub 2009 Jan 16.PMID: 19151370 [PubMed - indexed for MEDLINE]Related articles

Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia.

Verkarre V, Fournet JC, de Lonlay P, Gross-Morand MS, Devillers M, Rahier J, Brunelle F, Robert JJ, Nihoul-Fékété C, Saudubray JM, Junien C.

J Clin Invest. 1998 Oct 1;102(7):1286-91.PMID: 9769320 [PubMed - indexed for MEDLINE]Related articlesFree article

Diabetes in very young children and mutations in the insulin-secreting cell potassium channel genes: therapeutic consequences.

Flechtner I, Vaxillaire M, Cavé H, Scharfmann R, Froguel P, Polak M.

Endocr Dev. 2007;12:86-98.PMID: 17923772 [PubMed - indexed for MEDLINE]Related articles

Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism.

Huopio H, Jääskeläinen J, Komulainen J, Miettinen R, Kärkkäinen P, Laakso M, Tapanainen P, Voutilainen R, Otonkoski T.

J Clin Endocrinol Metab. 2002 Oct;87(10):4502-7.PMID: 12364426 [PubMed - indexed for MEDLINE]Related articlesFree article

Congenital hyperinsulinism: molecular basis of a heterogeneous disease.

Meissner T, Beinbrech B, Mayatepek E.

Hum Mutat. 1999;13(5):351-61. Review.PMID: 10338089 [PubMed - indexed for MEDLINE]Related articles