Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene

New England Journal of Medicine

Volumn 338, Issue 19, 1998, Pages 1352-1357

  Stanley, Charles A ^a,h   Lieu, Yen K ^a   Hsu, Betty Y L ^a   Burlina, Alberto B ^b   Greenberg, Cheryl R ^c   Hopwood, Nancy J ^d   Perlman, Kusiel ^e   Rich, Barry H ^f   Zammarchi, Enrico ^g   Poncz, Mortimer ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b UNIVERSITY OF PADOVA   (Italy)

^c UNIVERSITY OF MANITOBA   (Canada)

^d UNIVERSITY OF MICHIGAN   (United States)

^e HOSPITAL FOR SICK CHILDREN   (Canada)

^f UNIVERSITY OF CHICAGO   (United States)

^g UNIVERSITY OF FLORENCE   (Italy)

^h CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

2 OXOGLUTARIC ACID; ADENOSINE DIPHOSPHATE; AMMONIA; COMPLEMENTARY DNA; DIAZOXIDE; GLUTAMATE DEHYDROGENASE; GLUTAMIC ACID; GUANOSINE TRIPHOSPHATE; INSULIN; MESSENGER RNA;

ALLELE; ANIMAL CELL; ARTICLE; CERCOPITHECIDAE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME INHIBITION; FEMALE; GENE; GENE MUTATION; HUMAN; HUMAN CELL; HYPERAMMONEMIA; HYPERINSULINISM; HYPOGLYCEMIA; INFANT; MALE; NONHUMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SITE DIRECTED MUTAGENESIS;

AMMONIA; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GLUTAMATE DEHYDROGENASE; HUMANS; HYPERINSULINISM; INFANT; INSULIN; MALE; METABOLISM, INBORN ERRORS; MITOCHONDRIA; POINT MUTATION; SYNDROME; UREA;

EID: 0032493123     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJM199805073381904     Document Type: Article

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