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

Detalles Bibliográficos
Autores principales:	Hayano, Shunsuke, Amamoto, Masano, Naito, Etsuo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2023
Materias:	Clinical Notes
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10108131/ https://www.ncbi.nlm.nih.gov/pubmed/36225105 http://dx.doi.org/10.1111/ped.15385

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