Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients.

Orphanet J Rare Dis · 2020 · PMC7579914 · PMID 33092611

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considerably significantno p-value reported

Despite this fact, the patients retain considerably significant PDC activity (20–30%), considering the expected impairment on PDC assembly.

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