Prasun P, Young S, Salomons G, Werneke A, Jiang YH, Struys E, Paige M, Avantaggiati ML, McDonald M. Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria. JIMD Rep. 2015;19():111–5. PMID: 25614306; PMCID: PMC4501236.
Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria