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- Central nervous system malformations in ethylmalonic encephalopathy Journal Articles
- Clinical, enzymatic and molecular characterization of nine new patients with malonyl‐coenzyme A decarboxylase deficiency Journal Articles
- Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism Journal Articles
- Mechanisms of the interaction of nitroxyl with mitochondria. Journal Articles
- Methylmalonic acidemia: 6 years' clinical experience with two variants unresponsive to vitamin B12 therapy. Journal Articles