Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles. [electronic resource]
Producer: 20060516Description: 293-8 p. digitalISSN:- 1098-1004
- Adult
- Age of Onset
- Alleles
- Amino Acid Sequence
- Amino Acid Substitution
- Amino-Acid N-Acetyltransferase -- chemistry
- Animals
- Brain Death
- Catalysis
- Child
- Consensus Sequence
- DNA Mutational Analysis
- Dietary Proteins -- adverse effects
- Fatal Outcome
- Female
- Glutamates -- metabolism
- Glutamic Acid -- metabolism
- Humans
- Hyperammonemia -- enzymology
- Infant, Newborn
- Learning Disabilities -- genetics
- Male
- Molecular Sequence Data
- Multiple Trauma -- surgery
- Mutagenesis, Site-Directed
- Mutation, Missense
- Point Mutation
- Postoperative Complications
- RNA Splice Sites -- genetics
- Recombinant Fusion Proteins -- metabolism
- Substrate Specificity
- Urea -- metabolism
- Vertebrates -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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