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
Acute Flaccid Paralysis due to Pyruvate Dehydrogenase E1-Alpha Deficiency.
Laxmi V et al.
Indian Journal of Pediatrics, 2024
Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding region.
Naito E et al.
Biochimica Et Biophysica Acta, 2002
Characterization of a missense mutation at histidine-44 in a pyruvate dehydrogenase-deficient patient.
Jacobia SJ et al.
Biochimica Et Biophysica Acta, 2002
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