Funghini, S <br/><br/>
Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort.  [electronic resource] 

 -  Gene  Feb 2012 
 - 228-34 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1879-0038 
<br/><br/><label>Standard No.: </label>10.1016/j.gene.2011.11.052  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Carbamoyl-Phosphate Synthase (Ammonia)--genetics<br/>Carbamoyl-Phosphate Synthase I Deficiency Disease--diagnosis<br/>Child, Preschool<br/>Cohort Studies<br/>Female<br/>Humans<br/>Infant<br/>Infant, Newborn<br/>Italy<br/>Male<br/>Mutation