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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author Hayano, Shunsuke
Amamoto, Masano
Naito, Etsuo
author_facet Hayano, Shunsuke
Amamoto, Masano
Naito, Etsuo
author_sort Hayano, Shunsuke
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spelling pubmed-101081312023-04-18 Thiamine‐responsive pyruvate dehydrogenase complex deficiency presenting as recurrent muscle weakness: Identification of a novel mutation (p.T111I) in the PDHA1 gene Hayano, Shunsuke Amamoto, Masano Naito, Etsuo Pediatr Int Clinical Notes John Wiley and Sons Inc. 2023-01-30 2023 /pmc/articles/PMC10108131/ /pubmed/36225105 http://dx.doi.org/10.1111/ped.15385 Text en © 2022 The Authors. Pediatrics International published by John Wiley & Sons Australia, Ltd on behalf of Japan Pediatric Society. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Clinical Notes
Hayano, Shunsuke
Amamoto, Masano
Naito, Etsuo
Thiamine‐responsive pyruvate dehydrogenase complex deficiency presenting as recurrent muscle weakness: Identification of a novel mutation (p.T111I) in the PDHA1 gene
title Thiamine‐responsive pyruvate dehydrogenase complex deficiency presenting as recurrent muscle weakness: Identification of a novel mutation (p.T111I) in the PDHA1 gene
title_full Thiamine‐responsive pyruvate dehydrogenase complex deficiency presenting as recurrent muscle weakness: Identification of a novel mutation (p.T111I) in the PDHA1 gene
title_fullStr Thiamine‐responsive pyruvate dehydrogenase complex deficiency presenting as recurrent muscle weakness: Identification of a novel mutation (p.T111I) in the PDHA1 gene
title_full_unstemmed Thiamine‐responsive pyruvate dehydrogenase complex deficiency presenting as recurrent muscle weakness: Identification of a novel mutation (p.T111I) in the PDHA1 gene
title_short Thiamine‐responsive pyruvate dehydrogenase complex deficiency presenting as recurrent muscle weakness: Identification of a novel mutation (p.T111I) in the PDHA1 gene
title_sort thiamine‐responsive pyruvate dehydrogenase complex deficiency presenting as recurrent muscle weakness: identification of a novel mutation (p.t111i) in the pdha1 gene
topic Clinical Notes
url 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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AT amamotomasano thiamineresponsivepyruvatedehydrogenasecomplexdeficiencypresentingasrecurrentmuscleweaknessidentificationofanovelmutationpt111iinthepdha1gene
AT naitoetsuo thiamineresponsivepyruvatedehydrogenasecomplexdeficiencypresentingasrecurrentmuscleweaknessidentificationofanovelmutationpt111iinthepdha1gene

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