Congenital hyperinsulinism and glucose hypersensitivity in homozygous and heterozygous carriers of Kir6.2 (KCNJ11) mutation V290M mutation: K ATP channel inactivation mechanism and clinical management

Diabetes

Volumn 60, Issue 1, 2011, Pages 209-217

  Loechner, Karen J ^a   Akrouh, Alejandro ^b   Kurata, Harley T ^b   Dionisi Vici, Carlo ^c   Maiorana, Arianna ^c   Pizzoferro, Milena ^c   Rufini, Vittoria ^d   De Ville De Goyet, Jean ^c   Colombo, Carlo ^c   Barbetti, Fabrizio ^c,e   Koster, Joseph C ^f   Nichols, Colin G ^b  

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d CATHOLIC UNIVERSITY   (Italy)

^e UNIVERSITY OF ROME TOR VERGATA   (Italy)

^f University of Tor Vergata ^*

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE SENSITIVE POTASSIUM CHANNEL; AMLODIPINE; DIAZOXIDE; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; OCTREOTIDE;

ARTICLE; CASE REPORT; CHILD; DISEASE COURSE; FEMALE; GENE; GENE MUTATION; GENOTYPE; GLUCOSE BLOOD LEVEL; GLUCOSE TOLERANCE; HEART LEFT VENTRICLE HYPERTROPHY; HETEROZYGOSITY LOSS; HETEROZYGOTE; HUMAN; HYPERTENSION; HYPOGLYCEMIA; INSULIN RELEASE; PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY; PRIORITY JOURNAL; V290M GENE;

ADENOSINE TRIPHOSPHATE; CARRIER STATE; CHILD; DNA; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; GENE AMPLIFICATION; GENE SILENCING; GLUCOSE TOLERANCE TEST; HETEROZYGOTE; HOMOZYGOTE; HUMANS; HYPERINSULINISM; IMMUNOBLOTTING; INSULIN; ION CHANNEL GATING; ISLETS OF LANGERHANS; MALE; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; POTASSIUM CHANNELS; POTASSIUM CHANNELS, INWARDLY RECTIFYING; RUBIDIUM;

EID: 78751472528     PISSN: 00121797     EISSN: 1939327X     Source Type: Journal    
DOI: 10.2337/db10-0731     Document Type: Article

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