A case of hyperinsulinism/hyperammonaemia syndrome with reduced carbamoyl-phosphate synthetase-1 activity in liver: a pitfall in enzymatic diagnosis for hyperammonaemia. [electronic resource]
Producer: 20060130Description: 681-7 p. digitalISSN:- 0141-8955
- Adolescent
- Ammonia -- metabolism
- Carbamoyl-Phosphate Synthase (Ammonia) -- biosynthesis
- DNA, Complementary -- metabolism
- Diagnosis, Differential
- Exons
- Female
- Glucose -- metabolism
- Glutamate Dehydrogenase -- genetics
- Humans
- Hyperammonemia -- diagnosis
- Hyperinsulinism -- diagnosis
- Liver -- enzymology
- Liver Extracts -- metabolism
- Metabolism, Inborn Errors -- diagnosis
- Mutation
- Sequence Analysis, DNA
- Syndrome
- Time Factors
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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