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Pyruvate Dehydrogenase E1 Alpha Deficiency

Known as: PDHAD, LACTIC ACIDEMIA, THIAMINE-RESPONSIVE, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY 
National Institutes of Health

Related topics

Related topics

15 relations

Broader (2)

Acidosis, LacticPyruvate Dehydrogenase (Lipoamide)
Agenesis of corpus callosumAtaxia with Lactic Acidosis, Type ICerebral atrophyChoreoathetosis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Clinical manifestations in two patients with pyruvate dehydrogenase deficiency and long-term survival
Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) results in lactic acidosis and hyperpyruvatemia. Two patients with PDHAD, a… 
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