Associated Papers
Biochemical characterization of two mutants of human pyruvate dehydrogenase, F205L and T231A of the E1alpha subunit.
Wu YG et al.
Journal of Inherited Metabolic Disease, 2003
Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding region.
Naito E et al.
Biochimica Et Biophysica Acta, 2002
Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.
Lissens W et al.
Human Mutation, 2000
Select a paper to view details