Molecular basis and characterization of the hyperinsulinism/hyperammonemia syndrome: Predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene

Diabetes

Volumn 49, Issue 4, 2000, Pages 667-673

  Stanley, Charles A ^a,c   Fang, Jie ^a   Kutyna, Karen ^a   Hsu, Betty Y L ^a   Ming, Jeffrey E ^a   Glaser, Ben ^b   Poncz, Mortimer ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^c CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMATE DEHYDROGENASE;

AMMONIA BLOOD LEVEL; ARTICLE; BLOOD SAMPLING; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; ENZYME ACTIVITY; EXON; FEMALE; GENE LOCUS; GENE MUTATION; HUMAN; HYPERAMMONEMIA; HYPERINSULINISM; HYPOGLYCEMIA; INSULIN RELEASE; MALE; PRIORITY JOURNAL;

EID: 0034029974     PISSN: 00121797     EISSN: None     Source Type: Journal    
DOI: 10.2337/diabetes.49.4.667     Document Type: Article

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