Associated Papers
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Merkevicius K et al.
Brain : a Journal of Neurology, 2025
41239557 (PubMed )
Supplement: awaf430_supplementary_data.pdf
Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit.
Cameron JM et al.
American Journal of Medical Genetics. Part A, 2004
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
A novel mutation (P316L) in a female with pyruvate dehydrogenase E1 alpha deficiency.
Takakubo F et al.
Human Mutation, 1995
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