Congenital Hyperinsulinism due to mutations in HNF4A and HADH

Reviews in Endocrine and Metabolic Disorders

Volumn 11, Issue 3, 2010, Pages 185-191

  Kapoor, Ritika R ^a,b   Heslegrave, Amanda ^a,b   Hussain, Khalid ^a,b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

Congenital hyperinsulinism; HADH; HNF4A; Hypoglycaemia

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE; DIAZOXIDE; GLUCAGON; HEPATOCYTE NUCLEAR FACTOR 4ALPHA;

ARTICLE; CLINICAL FEATURE; EXON; FATTY ACID OXIDATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE ACTIVITY; GENE EXPRESSION; GENE FUNCTION; GENE MAPPING; GENE MUTATION; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; GLUCOSE METABOLISM; HETEROZYGOUS MUTATION; HOMOZYGOSITY; HUMAN; HYPOGLYCEMIA; INSULIN RELEASE; LOSS OF FUNCTION MUTATION; MACROSOMIA; MATURITY ONSET DIABETES MELLITUS; MISSENSE MUTATION; NONHUMAN; PANCREAS ISLET BETA CELL; PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY; PHENOTYPE; SEIZURE; SEQUENCE ANALYSIS; WESTERN BLOTTING;

3-HYDROXYACYL COA DEHYDROGENASES; HEPATOCYTE NUCLEAR FACTOR 4; HUMANS; INFANT, NEWBORN; INSULIN-SECRETING CELLS; MODELS, BIOLOGICAL; MUTATION; PERSISTENT HYPERINSULINEMIA HYPOGLYCEMIA OF INFANCY;

EID: 78650585349     PISSN: 13899155     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11154-010-9148-y     Document Type: Article

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