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3. The clinical features and genetic characteristics of MT-ATP6-related mitochondrial disease: a national, observational study

34. Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency

35. Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency

50. Deficiency of respiratory chain complex I is a common cause of leigh disease

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