Caldovic, Ljubica <br/><br/>
Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles.  [electronic resource] 

 -  Human mutation  Mar 2005 
 - 293-8 p.  digital 
<br/><br/> 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. 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.20146  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Age of Onset<br/>Alleles<br/>Amino Acid Sequence<br/>Amino Acid Substitution<br/>Amino-Acid N-Acetyltransferase--chemistry<br/>Animals<br/>Brain Death<br/>Catalysis<br/>Child<br/>Consensus Sequence<br/>DNA Mutational Analysis<br/>Dietary Proteins--adverse effects<br/>Fatal Outcome<br/>Female<br/>Glutamates--metabolism<br/>Glutamic Acid--metabolism<br/>Humans<br/>Hyperammonemia--enzymology<br/>Infant, Newborn<br/>Learning Disabilities--genetics<br/>Male<br/>Molecular Sequence Data<br/>Multiple Trauma--surgery<br/>Mutagenesis, Site-Directed<br/>Mutation, Missense<br/>Point Mutation<br/>Postoperative Complications<br/>RNA Splice Sites--genetics<br/>Recombinant Fusion Proteins--metabolism<br/>Substrate Specificity<br/>Urea--metabolism<br/>Vertebrates--genetics