Mayr, Johannes A <br/><br/>
Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation.  [electronic resource] 

 -  American journal of human genetics  Dec 2011 
 - 792-7 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2011.11.011  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--diagnosis<br/>Acidosis, Lactic--genetics<br/>Amino Acid Sequence<br/>Base Sequence<br/>Chromosomes, Human, Pair 4<br/>Consanguinity<br/>Energy Metabolism--genetics<br/>Epilepsy--diagnosis<br/>Escherichia coli--genetics<br/>Fatal Outcome<br/>Fibroblasts--metabolism<br/>Gene Expression<br/>Glycine--blood<br/>Homozygote<br/>Humans<br/>Infant, Newborn<br/>Infant, Newborn, Diseases--diagnosis<br/>Male<br/>Mitochondria--enzymology<br/>Molecular Sequence Data<br/>Muscle Hypotonia--genetics<br/>Muscle, Skeletal--enzymology<br/>Mutation, Missense<br/>Pyruvate Dehydrogenase Complex--genetics<br/>Sequence Analysis, DNA<br/>Sulfurtransferases--deficiency