Associated Papers
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
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Sebate B et al.
Plos One, 2021
33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › 8772__III-8__
Phenotypic and Neuropathological Characterization of Fetal Pyruvate Dehydrogenase Deficiency.
Pirot N et al.
Journal of Neuropathology and Experimental Neurology, 2016
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