Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).

Pubmed ID: 
27450367
Year: 
2016
Month: 
Jul
Citation: 
Balasubramaniam S, Lewis B, Mock DM, Said HM, Tarailo-Graovac M, Mattman A, van Karneebek CD, Thorburn DR, Rodenburg RJ, Christodoulou J. Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD). JIMD reports (2016) PubMed (Grant IDs: 1022896)