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
Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency.
Bruhn H et al.
Human Mutation, 2024
Solvent accessibility of E1α and E1β residues with known missense mutations causing pyruvate dehydrogenase complex (PDC) deficiency: Impact on PDC-E1 structure and function.
Ducich NH et al.
Journal of Inherited Metabolic Disease, 2022
Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency.
Ostergaard E et al.
Journal of Inherited Metabolic Disease, 2009
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