Moderate citrullinaemia without hyperammonaemia in a child with mutated and deficient argininosuccinate synthetase. [electronic resource]
Producer: 20030625Description: 102-7 p. digitalISSN:- 0004-5632
- Amino Acids -- blood
- Animals
- Argininosuccinate Synthase -- deficiency
- Child, Preschool
- Citrullinemia -- diagnosis
- DNA Mutational Analysis
- Female
- Fibroblasts -- metabolism
- Humans
- Hyperammonemia -- diagnosis
- Mice
- Mutation, Missense
- Rats
- Reverse Transcriptase Polymerase Chain Reaction
- Skin -- metabolism
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Publication Type: Case Reports; Journal Article
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