Ottolenghi, Chris <br/><br/>
Clinical and biochemical heterogeneity associated with fumarase deficiency.  [electronic resource] 

 -  Human mutation  Sep 2011 
 - 1046-52 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.21534  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Cell Hypoxia<br/>Child<br/>Child, Preschool<br/>Computer Simulation<br/>Female<br/>Fumarate Hydratase--chemistry<br/>Fumarates--urine<br/>Humans<br/>Hypoxia-Inducible Factor 1, alpha Subunit--metabolism<br/>Male<br/>Malformations of Cortical Development--enzymology<br/>Mutation--genetics<br/>Signal Transduction