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Takuya Fushimi

Chiba Children's Hospital

SCHOLARLY PAPERS

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Scholarly Papers (1)

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Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis

Number of pages: 20 Posted: 29 Jan 2024
Kohta Nakamura, Yukiko Yatsuka, Sachie Naito, Akira Hasegawa, Takeya Kasukawa, Atsushi Kondo, Yoshihito Kishita, Yohei Sugiyama, Takanori Onuki, Tomohiro Ebihara, Tomoko Tsuruoka, Takuya Fushimi, Akira Ohtake, Kei Murayama, Atsuko Imai-Okazaki and Yasushi Okazaki
Juntendo University, Juntendo University, JCHO Funabashi Central Hospital, RIKEN Center for Integrative Medical Sciences, RIKEN Center for Integrative Medical Sciences, RIKEN Center for Integrative Medical Sciences, Kindai University, Juntendo University - Juntendo University Hospital, Chiba Children's Hospital, Chiba Children's Hospital, Chiba Children's Hospital, Chiba Children's Hospital, Saitama Medical University, Juntendo University, Juntendo University and Juntendo University
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mitochondrial disease, mitochondrial DNA depletion syndrome, mitochondrial respiratory chain complex deficiencies, Sengers Syndrome, Genetic analysis