Yorifuji, T <br/><br/>
Hyperinsulinism-hyperammonemia syndrome caused by mutant glutamate dehydrogenase accompanied by novel enzyme kinetics.  [electronic resource] 

 -  Human genetics  Jun 1999 
 - 476-9 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0340-6717 
<br/><br/><label>Standard No.: </label>10.1007/s004390050990  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adenosine Diphosphate--pharmacology<br/>Ammonia--blood<br/>Base Sequence<br/>Dose-Response Relationship, Drug<br/>Genetic Markers<br/>Genotype<br/>Glutamate Dehydrogenase--genetics<br/>Guanosine Triphosphate--pharmacology<br/>Humans<br/>Hyperinsulinism--complications<br/>Kinetics<br/>Male<br/>Metabolism, Inborn Errors--genetics<br/>Molecular Sequence Data<br/>Point Mutation<br/>Polymorphism, Genetic<br/>Syndrome