Chedrawi, Aziza K <br/><br/>
Novel V97G ASAH1 mutation found in Farber disease patients: unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system.  [electronic resource] 

 -  Brain & development  May 2012 
 - 400-4 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1872-7131 
<br/><br/><label>Standard No.: </label>10.1016/j.braindev.2011.07.003  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Acid Ceramidase--genetics<br/>Brain--pathology<br/>Child, Preschool<br/>Farber Lipogranulomatosis--genetics<br/>Female<br/>Humans<br/>Infant<br/>Magnetic Resonance Imaging<br/>Male<br/>Phenotype<br/>Severity of Illness Index<br/>Siblings