A novel mutation of glutamate dehydrogenase (H262Y) in an infant with hyperinsulinemic hypoglycemia and hyperammonemia

Journal of Endocrine Genetics

Volumn 1, Issue 4, 2000, Pages 235-241

  Halldorsdottir, S ^a   Chung, W K ^a   Nicholson, J F ^a   Das, K ^a   Leibel, R L ^a  

^a Division of Molecular Genetics   (United States)

Author keywords

HHS syndrome; Pancreatic beta cells

Indexed keywords

DIAZOXIDE; GLUTAMATE DEHYDROGENASE;

AMINO ACID METABOLISM; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 10; CLINICAL FEATURE; ENZYME ACTIVITY; ENZYME REGULATION; HUMAN; HYPERAMMONEMIA; HYPERINSULINEMIA; HYPOGLYCEMIA; INSULIN RELEASE; MALE; MISSENSE MUTATION; MUTATION; SYNDROME;

EID: 0033810556     PISSN: 1565012X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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