Alsalem, Ahmed <br/><br/>
Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype.  [electronic resource] 

 -  Gene  Apr 2012 
 - 141-3 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1879-0038 
<br/><br/><label>Standard No.: </label>10.1016/j.gene.2011.12.047  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adrenal Insufficiency--metabolism<br/>Adrenoleukodystrophy--diagnosis<br/>Alleles<br/>Brain--pathology<br/>Child, Preschool<br/>Eukaryotic Initiation Factor-2B--genetics<br/>Female<br/>Homozygote<br/>Humans<br/>Leukoencephalopathies--diagnosis<br/>Magnetic Resonance Imaging--methods<br/>Models, Molecular<br/>Molecular Conformation<br/>Mutation, Missense<br/>Phenotype