Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the β-cell sulfonylurea receptor

Journal of Clinical Endocrinology and Metabolism

Volumn 89, Issue 9, 2004, Pages 4450-4456

  Magge, Sheela N ^a   Shyng, Show Ling ^b   MacMullen, Courtney ^a   Steinkrauss, Linda ^a   Ganguly, Arupa ^c   Katz, Lorraine E L ^a   Stanley, Charles A ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; ANTICONVULSIVE AGENT; CALCIUM; CORTICOTROPIN; DIAZOXIDE; GENOMIC DNA; GLUCOSE; INSULIN; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; LEUCINE; PREDNISONE; RUBIDIUM 86; SULFONYLUREA RECEPTOR 1; TOLBUTAMIDE; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; FAMILIAL DISEASE; FAMILIAL LEUCINE SENSITIVE HYPOGLYCEMIA; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC PREDISPOSITION; GLUCOSE BLOOD LEVEL; HUMAN; HYPERINSULINISM; HYPOGLYCEMIA; INBORN ERROR OF METABOLISM; INSULIN RESPONSE; MALE; PANCREAS ISLET BETA CELL; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; SEIZURE;

CHILD, PRESCHOOL; HUMANS; HYPOGLYCEMIA; ISLETS OF LANGERHANS; LEUCINE; MALE; MULTIDRUG RESISTANCE-ASSOCIATED PROTEINS; MUTATION; PERSISTENT HYPERINSULINEMIA HYPOGLYCEMIA OF INFANCY;

EID: 4544344374     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2004-0441     Document Type: Article

References (25)

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