3-Hydroxyacyl-coenzyme A dehydrogenase deficiency and hyperinsulinemic hypoglycemia: Characterization of a novel mutation and severe dietary protein sensitivity

Journal of Clinical Endocrinology and Metabolism

Volumn 94, Issue 7, 2009, Pages 2221-2225

  Kapoor, Ritika R ^a,b   James, Chela ^a,b   Flanagan, Sarah E ^c   Ellard, Sian ^c   Eaton, Simon ^a,b   Hussain, Khalid ^a,b  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c PENINSULA MEDICAL SCHOOL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE; ACYLCARNITINE; CARBOXYLIC ACID; CARNITINE; DIAZOXIDE; GLUCOSE; GLUTARIC ACID;

3 HYDROXYACYL COENZYME A DEHYDROGENASE DEFICIENCY; AMINO ACID SUBSTITUTION; CASE REPORT; CONFERENCE PAPER; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; FOOD INTAKE; GENE SEQUENCE; GLUCOSE BLOOD LEVEL; HOMOZYGOSITY; HUMAN; HUMAN CELL; HYPERINSULINEMIA; HYPOGLYCEMIA; INFANT; INSULIN BLOOD LEVEL; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN INTAKE; PROTEIN INTOLERANCE; PROTEIN URINE LEVEL; SEIZURE; SKIN FIBROBLAST;

EID: 67650221414     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2009-0423     Document Type: Conference Paper

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