Marie, Sandrine <br/><br/>
AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC.  [electronic resource] 

 -  American journal of human genetics  Jun 2004 
 - 1276-81 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0002-9297 
<br/><br/><label>Standard No.: </label>10.1086/421475  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Aminoimidazole Carboxamide--analogs & derivatives<br/>Blindness--congenital<br/>Child, Preschool<br/>Erythrocytes--metabolism<br/>Female<br/>Fibroblasts--drug effects<br/>Humans<br/>Hydroxymethyl and Formyl Transferases--deficiency<br/>Metabolism, Inborn Errors--genetics<br/>Molecular Sequence Data<br/>Mutation--genetics<br/>Nucleotide Deaminases--genetics<br/>Phosphoribosylaminoimidazolecarboxamide Formyltransferase<br/>Purines--biosynthesis<br/>Recombinant Proteins--genetics<br/>Ribonucleotides--metabolism