Associated Papers
Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants.
Wild KT et al.
Genetics in Medicine Open, 2026
41584744 (PubMed )
Supplement: mmc4.xlsx › Sheet1
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
Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.
Imbard A et al.
Molecular Genetics and Metabolism, 2011
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