Baumgartner, M R <br/><br/>
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] 

 -  Human molecular genetics  Nov 2000 
 - 2853-8 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0964-6906 
<br/><br/><label>Standard No.: </label>10.1093/hmg/9.19.2853  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Amino Acid Metabolism, Inborn Errors--blood<br/>Animals<br/>Arginine--blood<br/>CHO Cells<br/>Catalytic Domain--genetics<br/>Child<br/>Citrulline--blood<br/>Cricetinae<br/>DNA Mutational Analysis<br/>Female<br/>Fibroblasts<br/>France<br/>Humans<br/>Hyperammonemia--blood<br/>Male<br/>Mutation--genetics<br/>Ornithine--blood<br/>Ornithine-Oxo-Acid Transaminase--genetics<br/>Pedigree<br/>Phenotype<br/>Proline--blood<br/>RNA, Messenger--genetics<br/>Transfection