
Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: Lack of correlation with genotype
Keywords: رژیم غذایی کتوژنیک; CIDEM; Center for Inherited Disorders of Energy Metabolism; CQ; cognitive quotient; DCA; dichloroacetate; MELAS; mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes; PDC; pyruvate dehydrogenase complex; TPP; thiamine pyrophosphat