Hyperinsulinism/hyperammonemia syndrome: insights into the regulatory role of glutamate dehydrogenase in ammonia metabolism
- 30 April 2004
- journal article
- review article
- Published by Elsevier BV in Molecular Genetics and Metabolism
- Vol. 81, 45-51
- https://doi.org/10.1016/j.ymgme.2003.10.013
Abstract
No abstract availableKeywords
This publication has 12 references indexed in Scilit:
- Hyperinsulinism and Hyperammonemia Syndrome: Report of Twelve Unrelated PatientsPediatric Research, 2001
- Acute Insulin Responses to Leucine in Children with the Hyperinsulinism/Hyperammonemia SyndromeJournal of Clinical Endocrinology & Metabolism, 2001
- Hyperinsulinism/Hyperammonemia Syndrome in Children with Regulatory Mutations in the Inhibitory Guanosine Triphosphate-Binding Domain of Glutamate DehydrogenaseJournal of Clinical Endocrinology & Metabolism, 2001
- Structures of bovine glutamate dehydrogenase complexes elucidate the mechanism of purine regulationJournal of Molecular Biology, 2001
- Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndromeThe Journal of Pediatrics, 2001
- Functional Hyperactivity of Hepatic Glutamate Dehydrogenase as a Cause of the Hyperinsulinism/Hyperammonemia Syndrome: Effect of TreatmentPEDIATRICS, 2000
- Molecular basis and characterization of the hyperinsulinism/hyperammonemia syndrome: predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene. HI/HA Contributing Investigators.Diabetes, 2000
- Hyperinsulinism and Hyperammonemia in Infants with Regulatory Mutations of the Glutamate Dehydrogenase GeneThe New England Journal of Medicine, 1998
- A syndrome of congenital hyperinsulinism and hyperammonemiaThe Journal of Pediatrics, 1997
- Biochemical evaluation of a patient with a familial form of leucine-sensitive hypoglycemia and concomitant hyperammonemiaMetabolism, 1996