Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase. [electronic resource]
Producer: 20010103Description: 2853-8 p. digitalISSN:- 0964-6906
- Adult
- Amino Acid Metabolism, Inborn Errors -- blood
- Animals
- Arginine -- blood
- CHO Cells
- Catalytic Domain -- genetics
- Child
- Citrulline -- blood
- Cricetinae
- DNA Mutational Analysis
- Female
- Fibroblasts
- France
- Humans
- Hyperammonemia -- blood
- Male
- Mutation -- genetics
- Ornithine -- blood
- Ornithine-Oxo-Acid Transaminase -- genetics
- Pedigree
- Phenotype
- Proline -- blood
- RNA, Messenger -- genetics
- Transfection
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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