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    Results: 1 to 20 of 278

    1.

    Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation.

    Molven A, Matre GE, Duran M, Wanders RJ, Rishaug U, Njølstad PR, Jellum E, Søvik O.

    Diabetes. 2004 Jan;53(1):221-7.PMID: 14693719 [PubMed - indexed for MEDLINE]Related articlesFree article

    2.

    Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion.

    Clayton PT, Eaton S, Aynsley-Green A, Edginton M, Hussain K, Krywawych S, Datta V, Malingre HE, Berger R, van den Berg IE.

    J Clin Invest. 2001 Aug;108(3):457-65.PMID: 11489939 [PubMed - indexed for MEDLINE]Related articlesFree article

    3.

    Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with hyperinsulinism: a novel glucose-fatty acid cycle?

    Eaton S, Chatziandreou I, Krywawych S, Pen S, Clayton PT, Hussain K.

    Biochem Soc Trans. 2003 Dec;31(Pt 6):1137-9. Review.PMID: 14641012 [PubMed - indexed for MEDLINE]Related articles

    4.

    An autosomal dominant form of familial persistent hyperinsulinemic hypoglycemia of infancy, not linked to the sulfonylurea receptor locus.

    Kukuvitis A, Deal C, Arbour L, Polychronakos C.

    J Clin Endocrinol Metab. 1997 Apr;82(4):1192-4.PMID: 9100595 [PubMed - indexed for MEDLINE]Related articlesFree article

    5.

    Dominantly inherited hyperinsulinaemic hypoglycaemia.

    de Lonlay P, Giurgea I, Sempoux C, Touati G, Jaubert F, Rahier J, Ribeiro M, Brunelle F, Nihoul-Fékété C, Robert JJ, Saudubray JM, Stanley C, Bellanné-Chantelot C.

    J Inherit Metab Dis. 2005;28(3):267-76. Review.PMID: 15868462 [PubMed - indexed for MEDLINE]Related articles

    6.

    Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity.

    Tornovsky S, Crane A, Cosgrove KE, Hussain K, Lavie J, Heyman M, Nesher Y, Kuchinski N, Ben-Shushan E, Shatz O, Nahari E, Potikha T, Zangen D, Tenenbaum-Rakover Y, de Vries L, Argente J, Gracia R, Landau H, Eliakim A, Lindley K, Dunne MJ, Aguilar-Bryan L, Glaser B.

    J Clin Endocrinol Metab. 2004 Dec;89(12):6224-34.PMID: 15579781 [PubMed - indexed for MEDLINE]Related articlesFree article

    7.

    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

    8.

    Reye-like syndrome resulting from novel missense mutations in mitochondrial medium- and short-chain l-3-hydroxy-acyl-CoA dehydrogenase.

    Bennett MJ, Russell LK, Tokunaga C, Narayan SB, Tan L, Seegmiller A, Boriack RL, Strauss AW.

    Mol Genet Metab. 2006 Sep-Oct;89(1-2):74-9. Epub 2006 May 24.PMID: 16725361 [PubMed - indexed for MEDLINE]Related articles

    9.

    Characterization of genes encoding the pancreatic beta-cell ATP-sensitive K+ channel in persistent hyperinsulinemic hypoglycemia of infancy in Japanese patients.

    Someya T, Miki T, Sugihara S, Minagawa M, Yasuda T, Kohno Y, Seino S.

    Endocr J. 2000 Dec;47(6):715-22.PMID: 11228046 [PubMed - indexed for MEDLINE]Related articles

    10.

    Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene.

    Hussain K, Clayton PT, Krywawych S, Chatziandreou I, Mills P, Ginbey DW, Geboers AJ, Berger R, van den Berg IE, Eaton S.

    J Pediatr. 2005 May;146(5):706-8.PMID: 15870679 [PubMed - indexed for MEDLINE]Related articles

    11.

    Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy.

    Thomas PM, Cote GJ, Wohllk N, Haddad B, Mathew PM, Rabl W, Aguilar-Bryan L, Gagel RF, Bryan J.

    Science. 1995 Apr 21;268(5209):426-9.PMID: 7716548 [PubMed - indexed for MEDLINE]Related articles

    12.

    Hunting for a hypoglycemia gene: severe neonatal hypoglycemia in a consanguineous family.

    Molven A, Rishaug U, Matre GE, Njølstad PR, Søvik O.

    Am J Med Genet. 2002 Nov 15;113(1):40-6.PMID: 12400064 [PubMed - indexed for MEDLINE]Related articles

    13.

    Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy.

    Thomas P, Ye Y, Lightner E.

    Hum Mol Genet. 1996 Nov;5(11):1809-12.PMID: 8923010 [PubMed - indexed for MEDLINE]Related articlesFree article

    14.

    The molecular basis for familial persistent hyperinsulinemic hypoglycemia of infancy.

    Thomas PM, Cote GJ, Wohllk N, Mathew PM, Gagel RF.

    Proc Assoc Am Physicians. 1996 Jan;108(1):14-9.PMID: 8834059 [PubMed - indexed for MEDLINE]Related articles

    15.

    Hyperinsulinism in infancy: understanding the pathophysiology.

    Hussain K, Aynsley-Green A.

    Int J Biochem Cell Biol. 2003 Sep;35(9):1312-7. Review.PMID: 12798345 [PubMed - indexed for MEDLINE]Related articles

    16.

    3-Hydroxyacyl-coenzyme A dehydrogenase deficiency and hyperinsulinemic hypoglycemia: characterization of a novel mutation and severe dietary protein sensitivity.

    Kapoor RR, James C, Flanagan SE, Ellard S, Eaton S, Hussain K.

    J Clin Endocrinol Metab. 2009 Jul;94(7):2221-5. Epub 2009 May 5.PMID: 19417036 [PubMed - indexed for MEDLINE]Related articles

    17.

    Human short-chain L-3-hydroxyacyl-CoA dehydrogenase: cloning and characterization of the coding sequence.

    Vredendaal PJ, van den Berg IE, Malingré HE, Stroobants AK, Olde Weghuis DE, Berger R.

    Biochem Biophys Res Commun. 1996 Jun 25;223(3):718-23.PMID: 8687463 [PubMed - indexed for MEDLINE]Related articles

    18.

    Identification of a diffuse form of hyperinsulinemic hypoglycemia by 18-fluoro-L-3,4 dihydroxyphenylalanine positron emission tomography/CT in a patient carrying a novel mutation of the HADH gene.

    Di Candia S, Gessi A, Pepe G, Sogno Valin P, Mangano E, Chiumello G, Gianolli L, Proverbio MC, Mora S.

    Eur J Endocrinol. 2009 Jun;160(6):1019-23. Epub 2009 Mar 24.PMID: 19318379 [PubMed - indexed for MEDLINE]Related articles

    19.

    Fatal hepatic short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: clinical, biochemical, and pathological studies on three subjects with this recently identified disorder of mitochondrial beta-oxidation.

    Bennett MJ, Spotswood SD, Ross KF, Comfort S, Koonce R, Boriack RL, IJlst L, Wanders RJ.

    Pediatr Dev Pathol. 1999 Jul-Aug;2(4):337-45.PMID: 10347277 [PubMed - indexed for MEDLINE]Related articles

    20.

    Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations.

    Kapoor RR, Locke J, Colclough K, Wales J, Conn JJ, Hattersley AT, Ellard S, Hussain K.

    Diabetes. 2008 Jun;57(6):1659-63. Epub 2008 Feb 11.PMID: 18268044 [PubMed - indexed for MEDLINE]Related articlesFree article

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