Associated Papers
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Merkevicius K et al.
Brain : a Journal of Neurology, 2025
Clinical manifestations in two patients with pyruvate dehydrogenase deficiency and long-term survival.
Yoshida T et al.
Human Genome Variation, 2017
[Clinical features of pyruvate dehydrogenase complex deficiency and gene testing in one case].
Wu M et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014
Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation.
João Silva M et al.
European Journal of Pediatrics, 2009
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
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