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
Descripción
Sumario:

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