Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase

Orphanet Journal of Rare Diseases

Volumn 7, Issue 1, 2012, Pages

  Heslegrave, Amanda J ^a,b   Kapoor, Ritika R ^a,b   Eaton, Simon ^a,b   Chadefaux, Bernadette ^c   Akcay, Teoman ^d   Simsek, Enver ^e   Flanagan, Sarah E ^f   Ellard, Sian ^f   Hussain, Khalid ^a,b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d Ssl Etfal Education and Research Hospital   (Turkey)

^e OSMANGAZI UNIVERSITY MEDICAL FACULTY   (Turkey)

^f UNIVERSITY OF EXETER   (United Kingdom)

Author keywords

Hyperinsulinism; Hypoglycaemia; Leucine tolerance

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE; GLUCOSE; GLUTAMATE DEHYDROGENASE; GUANOSINE TRIPHOSPHATE; INSULIN; LEUCINE;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; GENETIC DISORDER; HUMAN; HUMAN CELL; HYPERINSULINEMIC HYPOGLYCEMIA; IMMUNOPRECIPITATION; LOSS OF FUNCTION MUTATION; LYMPHOBLAST; PROTEIN INTERACTION;

3-HYDROXYACYL COA DEHYDROGENASES; CHILD; CHILD, PRESCHOOL; FEMALE; GLUTAMATE DEHYDROGENASE; HUMANS; HYPERINSULINISM; HYPOGLYCEMIA; IMMUNOPRECIPITATION; INFANT; INSULIN; LEUCINE; MALE; MUTATION;

EID: 84860809004     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-7-25     Document Type: Article

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