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Pyruvate Carboxylase and Pyruvate Dehydrogenase Deficiency
2014Pyruvate carboxylase and pyruvate dehydrogenase deficiency are the most common disorders in pyruvate metabolism and almost always affect the central nervous system. The severity and the clinical phenotypes vary, with a range from overwhelming neonatal lactic acidosis and early death to milder presentations.
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Pyruvate carboxylase deficiency in twins
Journal of Inherited Metabolic Disease, 1986M A, Pollock +8 more
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Pyruvate carboxylase activity in lymphoblasts
Journal of Inherited Metabolic Disease, 1982G, Takada +4 more
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Pyruvate Carboxylase Activity in Primary Cultures of Astrocytes and Neurons
Journal of Neurochemistry, 1983Arne Schousboe, J Drejer
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