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Authors
Chen, Yen-Lin
Chung, Brian Hon-Yin
Mimaki, Masakazu https://orcid.org/0000-0001-8155-2496
Uchino, Shumpei
Chien, Yin-Hsiu
Mak, Christopher Chun-Yun
Peng, Steven Shinn-Forng
Wang, Wei-Chen
Lin, Yu-Li
Hwu, Wuh-Liang
Lee, Shyh-Jye https://orcid.org/0000-0001-8452-9152
Lee, Ni-Chung https://orcid.org/0000-0002-5011-7499
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Funding
Funding for this research was provided by:
National Taiwan University Hospital (111-UN0042, 111-UN0042, 113-UN0044)
The Society for the Relief of Disabled Children, Hong Kong
Ministry of Health, Labour and Welfare (23FC1034)
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Article History
Received: 30 October 2024
Revised: 24 January 2025
Accepted: 20 February 2025
First Online: 1 March 2025
Competing interests
: The authors declare no competing interests.
: Human subjects. This study was approved by the Research Ethics Committee of National Taiwan University Hospital (No. IRB No. 201505135RINA), and informed consent was obtained for all aspects of the study. Previous genetic studies of the patient, including whole mitochondrial genome sequencing and Prader-Willi syndrome, TP, and PDHA1 mutation analysis, were negative. Genomic DNA was extracted from the peripheral blood of the patient and parents. All methods were performed in accordance with the relevant guidelines and regulations. Animal ethical procedures. The animal study was reviewed and approved by the laboratory animal committee at National Taiwan University, Taipei, Taiwan (IACUC Approval ID: 112 Animal Use document No. 00050).
