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
Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency.
Deeb KK et al.
Molecular Genetics and Metabolism Reports, 2014
Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency.
Coughlin CR et al.
Molecular Genetics and Metabolism, 2010
Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency.
Ridout CK et al.
Human Genetics, 2008
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