Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A

Journal of Clinical Endocrinology and Metabolism

Volumn 97, Issue 10, 2012, Pages

  Stanescu, Diana E ^a   Hughes, Nkecha ^a   Kaplan, Bernard ^a   Stanley, Charles A ^a   De León, Diva D ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYBUTYRIC ACID; AMINOTRANSFERASE; CALCITRIOL; CITRATE SODIUM; DIAZOXIDE; GENOMIC DNA; GLUCAGON; GLYCOGEN; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; HEPATOCYTE NUCLEAR FACTOR 4ALPHA; KETONE; OCTREOTIDE; POTASSIUM; SODIUM DIHYDROGEN PHOSPHATE;

AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; CASE REPORT; CHILD; DIABETES MELLITUS; DRUG DOSE REDUCTION; FAMILY HISTORY; FANCONI RENOTUBULAR SYNDROME; FEMALE; FOLLOW UP; GENE; GENE MUTATION; GENE SEQUENCE; GLUCOSURIA; GLYCOGEN STORAGE DISEASE; HEPATOCYTE NUCLEAR FACTOR 1ALPHA GENE; HEPATOCYTE NUCLEAR FACTOR 4ALPHA GENE; HEPATOMEGALY; HETEROZYGOTE; HUMAN; HUMAN TISSUE; HYPERINSULINISM; HYPOGLYCEMIA; HYPOPHOSPHATEMIC RICKETS; INFANT; LARGE FOR GESTATIONAL AGE; LIVER BIOPSY; LIVER FIBROSIS; METABOLIC ACIDOSIS; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEWBORN; NON INSULIN DEPENDENT DIABETES MELLITUS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEINURIA; RICKETS;

AGE OF ONSET; CHILD; CHILD, PRESCHOOL; CONGENITAL HYPERINSULINISM; DIABETES MELLITUS, TYPE 2; FEMALE; HEPATOCYTE NUCLEAR FACTOR 1-ALPHA; HEPATOCYTE NUCLEAR FACTOR 4; HUMANS; HYPOGLYCEMIA; MUTATION, MISSENSE; PHENOTYPE;

EID: 84867244541     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2012-1356     Document Type: Article

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