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
Clinical manifestations in two patients with pyruvate dehydrogenase deficiency and long-term survival.
Yoshida T et al.
Human Genome Variation, 2017
Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency.
Ostergaard E et al.
Journal of Inherited Metabolic Disease, 2009
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