Publication | Open Access
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy
Samira Ait-El-Mkadem,
Manal Dayem-Quere,
Mirjana Gušić,
Annabelle Chaussenot,
Sylvie Bannwarth,
Bérengère François,
Emmanuelle C. Genin,
Konstantina Fragaki,
Catharina L.M. Volker-Touw,
Christelle Vasnier,
The American Journal of Human Genetics