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
Case Report: A novel hemizygous missense PDHA1 variant in a Vietnamese boy with pyruvate dehydrogenase E1-alpha deficiency.
Nguyen TTN et al.
Frontiers in Pediatrics, 2024
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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