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Article

Thiamine-responsive pyruvate dehydrogenase complex deficiency presenting as recurrent muscle weakness: Identification of a novel mutation (p.T111I) in the PDHA1 gene.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Jan 2023

Hayano Shunsuke, Amamoto Masano, Naito Etsuo

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PMID: 36225105
DOI: 10.1111/ped.15385
PMCID: PMC10108131

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