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Sasai Hideo

Gifu University

Yanagido 1-1

Gifu 501-1193

Japan

SCHOLARLY PAPERS

2

DOWNLOADS

81

TOTAL CITATIONS

0

Scholarly Papers (2)

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1.

Development of a quantitative real-time PCR-based newborn screening system for citrin deficiency using dried blood spots

Number of pages: 35 Posted: 26 Dec 2025
Jun Kido, Hiromasa Nakashima, Johannes Häberle, Fumiko Nozaki, Naomi Yano, Keishin Sugawara, Masanari Hasegawa, Yoichi Wada Yoichi Wada, Chikahiko Numakura, Masaru Shimura, Sasai Hideo, Shunsaku Kaji, Yuichi Mushimoto, Kotaro Anan Kotaro Anan and Kimitoshi Nakamura
Kumamoto University - Faculty of Life Sciences, Kumamoto University, affiliation not provided to SSRN, Kumamoto University, Kumamoto University, Kumamoto University, affiliation not provided to SSRN, Tohoku University, Saitama University - Saitama Medical University, affiliation not provided to SSRN, Gifu University, affiliation not provided to SSRN, Kyushu University, Kumamoto University and Kumamoto University
Downloads 46 (1,109,210)

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Fluorescence probe, newborn screening, quantitative real-time PCR, SLC25A13, Sanger sequencing

2.

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
Downloads 35 (1,318,317)

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