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Tomohiro Kanayama

Gifu University

Yanagido 1-1

Gifu 501-1193

Japan

SCHOLARLY PAPERS

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Scholarly Papers (1)

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1.

DGUOK-related mitochondrial DNA depletion syndrome presenting with neonatal cholestasis without marked hyperlactatemia: A diagnostic pitfall

Number of pages: 23 Posted: 18 Mar 2026
Moe Li, Sasai Hideo, Hiroaki Taniguchi, Atsushi Ishida, Yuya Kuwabara, Hideki Matsumoto, Daisuke Terazawa, Tomohiro Kanayama, Tatsuhiko Miyazaki, Akira Hara and Kei Murayama
affiliation not provided to SSRN, Gifu University, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, Gifu University, Gifu University, Gifu University and affiliation not provided to SSRN
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Abstract:

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Cholestasis, deoxyguanosine kinase deficiency, hepatocerebral form, liver transplantation, mitochondrial diseases, mitochondrial DNA depletion syndrome