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机译:丙酮酸脱氢酶COMPLEX-E2不足引起阵发性运动运动障碍
Univ Calif San Diego, La Jolla, CA 92093 USA;
Deficiency; Pyruvate Dehydrogenase (Lipoamide); Pyruvate Dehydrogenase ComplexAbnormal Movement;
机译:Urinary organic acids in succinic semialdehyde dehydrogenase deficiency: Evidence of α-oxidation of 4-hydroxybutyric acid, interaction of succinic semialdehyde with pyruvate dehydrogenase and possible secondary inhibition of mitochondrial β-oxidation
机译:Solvent accessibility of E1α and E1β residues with known missense mutations causing pyruvate dehydrogenase complex (PDC) deficiency: Impact on PDC‐E1 structure and function
机译:Pyruvate Dehydrogenase Complex Deficiency Due to PDHA1 Mutation-A Rare Treatable Cause for Episodic Ataxia in Children
机译:Paroxysmal Dyskinesia