Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism

European Journal of Endocrinology

Volumn 168, Issue 4, 2013, Pages 557-564

  Kapoor, Ritika R ^a   Flanagan, Sarah E ^b   Arya, Ved Bhushan ^a   Shield, Julian P ^c   Ellard, Sian ^b   Hussain, Khalid ^a,d  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF EXETER MEDICAL SCHOOL   (United Kingdom)

^c BRISTOL ROYAL HOSPITAL FOR CHILDREN   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYBUTYRYLCARNITINE; CARNITINE DERIVATIVE; DIAZOXIDE; GLUCOKINASE; HEPATOCYTE NUCLEAR FACTOR 4; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; UNCLASSIFIED DRUG;

ABCC8 GENE; ARTICLE; CHILD; CLINICAL FEATURE; COHORT ANALYSIS; CONSANGUINITY; DOMINANT INHERITANCE; ENVIRONMENTAL FACTOR; FAMILY HISTORY; GENE; GENE MUTATION; GENOTYPE; GLUD1 GENE; HADH GENE; HEREDITY; HUMAN; HYPERAMMONEMIA; MAJOR CLINICAL STUDY; PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY; PRIORITY JOURNAL; RECESSIVE INHERITANCE;

ATP-BINDING CASSETTE TRANSPORTERS; COHORT STUDIES; CONGENITAL HYPERINSULINISM; DIAZOXIDE; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; POTASSIUM CHANNELS, INWARDLY RECTIFYING; RECEPTORS, DRUG;

EID: 84875177775     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-12-0673     Document Type: Article

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