Toldo, Irene <br/><br/>
Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations.  [electronic resource] 

 -  Metabolic brain disease  06 2018 
 - 805-812 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review 
<br/><br/><label>ISSN: </label>1573-7365 
<br/><br/><label>Standard No.: </label>10.1007/s11011-017-0181-3  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Brain--metabolism<br/>Female<br/>Humans<br/>Infant<br/>Iron-Sulfur Proteins--genetics<br/>Lactic Acid--metabolism<br/>Leukoencephalopathies--diagnosis<br/>Mitochondria--metabolism<br/>Mutation<br/>Spinal Cord--metabolism