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- W2005304038 abstract "Characterization of the biochemical basis of various inherited disorders associated with lactic acidosis has increased dramatically in recent years. These include defects of enzymes of gluconeogenesis, pyruvate oxidation, and electron transport. Clinical manifestations of these disorders show great variation and overlap, frequently involving the central nervous system as well as skeletal and cardiac muscle. Several of these enzymes are large complexes of subunits encoded by multiple genes; the electron transport chain complexes include subunits encoded by both nuclear and mitochondrial genes. This great complexity complicates analysis of specific mutations, despite considerable progress in defining the primary structure of component proteins and their genes. With few exceptions, treatment of disorders associated with congenital lactic acidosis remains unsatisfactory." @default.
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- W2005304038 title "Lactic acidosis and mitochondrial disorders" @default.
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- W2005304038 doi "https://doi.org/10.1016/0009-9120(91)80007-p" @default.
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