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An intronic point mutation was identified in the E1alpha PDH gene from a boy with delayed development and lactic acidosis, an X-linked disorder associated with a partial defect in pyruvate dehydrogena… Read more
The purpose of the study was differential diagnosis of lactic acidosis in 44 children aged from 2 weeks to 4 years. In all of them the lactate level in repeated determinations exceeded 27 mg/100 ml. <… Read more
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My NAD Articles Doccumenting NAD Relevancy
Splicing error in E1alpha pyruvate dehydrogenase m…
Congenital lactic acidosis in children--differenti…