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4. KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. Massa O, Iafusco D, D'Amato E, Gloyn AL, Hattersley AT, Pasquino B, Tonini G, Dammacco F, Zanette G, Meschi F, Porzio O, Bottazzo G, Crinó A, Lorini R, Cerutti F, Vanelli M, Barbetti F, Early Onset Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetology. Hum Mutat; 2005 Jan; 25(1):22-7. PubMed ID: 15580558 [Abstract] [Full Text] [Related]
5. Diabetes and hypoglycaemia in young children and mutations in the Kir6.2 subunit of the potassium channel: therapeutic consequences. Flechtner I, de Lonlay P, Polak M. Diabetes Metab; 2006 Dec; 32(6):569-80. PubMed ID: 17296510 [Abstract] [Full Text] [Related]
6. Medical and developmental impact of transition from subcutaneous insulin to oral glyburide in a 15-yr-old boy with neonatal diabetes mellitus and intermediate DEND syndrome: extending the age of KCNJ11 mutation testing in neonatal DM. Mohamadi A, Clark LM, Lipkin PH, Mahone EM, Wodka EL, Plotnick LP. Pediatr Diabetes; 2010 May; 11(3):203-7. PubMed ID: 19686306 [Abstract] [Full Text] [Related]
11. Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation in the KCNJ11 gene. Slingerland AS, Nuboer R, Hadders-Algra M, Hattersley AT, Bruining GJ. Diabetologia; 2006 Nov; 49(11):2559-63. PubMed ID: 17047922 [Abstract] [Full Text] [Related]
12. The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities. Rica I, Luzuriaga C, Pérez de Nanclares G, Estalella I, Aragonés A, Barrio R, Bilbao JR, Carlés C, Fernández C, Fernández JM, Fernández-Rebollo E, Gastaldo E, Giralt P, Gomez Vida JM, Gutiérrez A, López Siguero JP, Martínez-Aedo MJ, Muñoz M, Prieto J, Rodrigo J, Vargas F, Castano L. Diabet Med; 2007 Jul; 24(7):707-13. PubMed ID: 17490422 [Abstract] [Full Text] [Related]
14. Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11. Mlynarski W, Tarasov AI, Gach A, Girard CA, Pietrzak I, Zubcevic L, Kusmierek J, Klupa T, Malecki MT, Ashcroft FM. Nat Clin Pract Neurol; 2007 Nov; 3(11):640-5. PubMed ID: 17982434 [Abstract] [Full Text] [Related]
15. 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. Flanagan SE, Edghill EL, Gloyn AL, Ellard S, Hattersley AT. Diabetologia; 2006 Jun; 49(6):1190-7. PubMed ID: 16609879 [Abstract] [Full Text] [Related]