DOOR syndrome: Deficiency of E1 component of the 2-oxoglutarate dehydrogenase complex

Sankar Surendran, Kimberlee Michals-Matalon, Stephan Krywawych, Qutub H. Qazi, Roberto Tuchman, Peter L. Rady, Stephan K. Tyring, Reuben Matalon

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Medicine & Life Sciences