Hyperinsulinism-hyperammonemia syndrome caused by mutant glutamate dehydrogenase accompanied by novel enzyme kinetics. [electronic resource]
Producer: 19990902Description: 476-9 p. digitalISSN:- 0340-6717
- Adenosine Diphosphate -- pharmacology
- Ammonia -- blood
- Base Sequence
- Dose-Response Relationship, Drug
- Genetic Markers
- Genotype
- Glutamate Dehydrogenase -- genetics
- Guanosine Triphosphate -- pharmacology
- Humans
- Hyperinsulinism -- complications
- Kinetics
- Male
- Metabolism, Inborn Errors -- genetics
- Molecular Sequence Data
- Point Mutation
- Polymorphism, Genetic
- Syndrome
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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