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
Dosage Compensation in Females with X-Linked Metabolic Disorders.
Juchniewicz P et al.
International Journal of Molecular Sciences, 2021
33925963 (PubMed )
Supplement: ijms-22-04514-s001.zip › Supplementary_File_Table_S2.pdf
Clinical manifestations in two patients with pyruvate dehydrogenase deficiency and long-term survival.
Yoshida T et al.
Human Genome Variation, 2017
Differential effect of DCA treatment on the pyruvate dehydrogenase complex in patients with severe PDHC deficiency.
Fouque F et al.
Pediatric Research, 2003
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
Dichloroacetate stabilizes the mutant E1alpha subunit in pyruvate dehydrogenase deficiency.
Morten KJ et al.
Neurology, 1999
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