Journal article

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

Shanti Balasubramaniam, B Lewis, DM Mock, HM Said, M Tarailo-Graovac, A Mattman, CD van Karnebeek, DR Thorburn, RJ Rodenburg, J Christodoulou, M Baumgartner, M Patterson, S Rahman, J Zschocke, E Morava, V Peters

JIMD reports | SPRINGER-VERLAG BERLIN | Published : 2017