The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy

Journal of Clinical Endocrinology and Metabolism

Volumn 93, Issue 3, 2008, Pages 1054-1061

  Koster, Joseph C ^a   Cadario, Francesco ^b   Peruzzi, Cinzia ^c   Colombo, Carlo ^d   Nichols, Colin G ^a   Barbetti, Fabrizio ^d,e,f,g  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF EASTERN PIEDMONT   (Italy)

^c MAGGIORE DELLA CARITÀ HOSPITAL   (Italy)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^e S Raffaele Scientific Park Foundation   (Italy)

^f UNIVERSITY OF ROME TOR VERGATA   (Italy)

^g S Raffaele Scientific Foundation   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GLIBENCLAMIDE; GLICLAZIDE; INSULIN; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; SULFONYLUREA; SULFONYLUREA RECEPTOR; SULFONYLUREA RECEPTOR 1; SULFONYLUREA RECEPTOR 2; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CLINICAL FEATURE; DIABETES MELLITUS; DRUG MEGADOSE; DRUG SUBSTITUTION; DRUG WITHDRAWAL; ELECTROPHYSIOLOGY; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; MEDICAL ASSESSMENT; MOTOR COORDINATION; MOTOR DYSFUNCTION; NEWBORN CARE; PRIORITY JOURNAL; TREATMENT RESPONSE;

SUS;

EID: 40849139200     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2007-1826     Document Type: Article

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