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
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
First demonstrated de novo insertion in the prion protein gene in a young patient with dementia.
Sánchez-Valle R et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2008
Thiamine responsive pyruvate dehydrogenase deficiency in an adult with peripheral neuropathy and optic neuropathy.
Sedel F et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2008
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