Fragaki, Konstantina <br/><br/>
Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency.  [electronic resource] 

 -  European journal of human genetics : EJHG  May 2013 
 - 528-34 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1476-5438 
<br/><br/><label>Standard No.: </label>10.1038/ejhg.2012.202  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alkyl and Aryl Transferases--genetics<br/>Annexin A5--metabolism<br/>Base Sequence<br/>Brain--pathology<br/>Cells, Cultured<br/>Child<br/>Epilepsy--pathology<br/>Exome--genetics<br/>Fibroblasts--metabolism<br/>Globosides--metabolism<br/>Humans<br/>Infant<br/>Magnetic Resonance Imaging<br/>Male<br/>Mass Spectrometry<br/>Membrane Potential, Mitochondrial--physiology<br/>Microsatellite Repeats--genetics<br/>Mitochondrial Diseases--pathology<br/>Molecular Sequence Data<br/>Pedigree<br/>Polymerase Chain Reaction<br/>Sequence Analysis, DNA<br/>Sialyltransferases--deficiency<br/>Spectrophotometry