Shane C Quinonez Steven M Leber Donna M Martin Jess G Thoene Jirair K Bedoyan
10.1016/j.pediatrneurol.2012.09.013
Pediatr Neurol
2013 Jan;48(1):67-72.
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/23290025/
Acidosis, Lactic / genetics Dihydrolipoamide Dehydrogenase / genetics Leigh Disease / complications Leigh Disease / genetics Maple Syrup Urine Disease / genetics
Acidosis, Lactic / genetics Dihydrolipoamide Dehydrogenase / genetics Leigh Disease / complications Leigh Disease / genetics Maple Syrup Urine Disease / genetics Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Acidosis, Lactic / complications Adolescent Brain / pathology Female Humans Magnetic Resonance Imaging Maple Syrup Urine Disease / complications Dihydrolipoamide Dehydrogenase Lactic Acidosis, Congenital Infantile, Due To LAD Deficiency
PMC4535688
23290025
Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency
2013