Balasubramaniam, Shanti Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD). [electronic resource] - JIMD reports 2017 - 99-107 p. digital Publication Type: Journal Article ISSN: 2192-8304 Standard No.: 10.1007/8904_2016_559 doi