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- W2619354321 abstract "Abstract Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) results in lactic acidosis and hyperpyruvatemia. Two patients with PDHAD, a man with a p.R263Q mutation, and a girl with a p.C145del mutation in PDHE1α , presented with lactic acidosis with neurological disorder. These patients were able to survive for a long period under careful nursing care. Herein, we discuss the factors contributing to their relatively stable clinical course, albeit with intellectual disability." @default.
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- W2619354321 date "2017-06-01" @default.
- W2619354321 modified "2023-10-16" @default.
- W2619354321 title "Clinical manifestations in two patients with pyruvate dehydrogenase deficiency and long-term survival" @default.
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- W2619354321 doi "https://doi.org/10.1038/hgv.2017.20" @default.
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