Sasai Hideo

ササイヒデオ | Sasai Hideo

Affiliation and department：

Research field (2)： Fetal medicine/Pediatrics , Metabolism and endocrinology

Research keywords (2)： Inborn errors of ketone body metabolism , Inborn errors of metabolism

Research theme for competitive and other funds (4)：

2022 - 2025 Developments of comprehensive diagnosis and analysis systems for disorders of ketone body metabolism
2019 - 2021 Molecular and functional analysis of HSD 10 disease
2017 - 2019 Functional analysis of HSD 10 disease
2016 - 2019 Research on defects in ketone body metabolism: Establishment of defective cell lines and expression systems of mutant enzymes .

Papers (59)：

Hideki Matsumoto, Hideo Sasai, Norio Kawamoto, Masato Katsuyama, Makoto Minamiyama, Satoshi Kuru, Toshiyuki Fukao, Hidenori Ohnishi. Loss-of-function polymorphisms in NQO1 are not associated with the development of subacute myelo-optico-neuropathy. Molecular genetics & genomic medicine. 2024. 12. 6. e2470
Go Tajima, Junko Aisaki, Keiichi Hara, Miyuki Tsumura, Reiko Kagawa, Fumiaki Sakura, Hideo Sasai, Miori Yuasa, Yosuke Shigematsu, Satoshi Okada. Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan. International Journal of Neonatal Screening. 2024
Atsushi Hijikata, Mikita Suyama, Shingo Kikugawa, Ryo Matoba, Takuya Naruto, Yumi Enomoto, Kenji Kurosawa, Naoki Harada, Kumiko Yanagi, Tadashi Kaname, et al. Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing. Nucleic acids research. 2024. 52. 1. 114-124
Hideki Matsumoto, Tomohiro Hori, Mai Mori, Hideo Sasai, Hidenori Ohnishi. Pseudoachondroplasia: Similar radiographic findings to mucopolysaccharidosis. Pediatrics International. 2024. 66. 1
Hideki Matsumoto, Tomohiro Hori, Mai Mori, Hideo Sasai, Tsuyoshi Tokuyama, Takahiro Yamada, Hidenori Ohnishi. Metaphyseal anadysplasia type 1: Familial and regressive rickets manifestation. Pediatrics International. 2024. 66. 1

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MISC (157)：

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Education (2)：

2013 - 2017 Gifu University Graduate School of Medicine Department of Pediatrics
2000 - 2006 Gifu University School of Medicine Medical Course

Professional career (1)：

Committee career (3)：

Awards (2)：

2017/10 - Japanese Society for Inherited Metabolic Diseases Promotion Award Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis
2015/11 - Japanese Society for Inherited Metabolic Diseases JCR Travel Award OXCT1 heterozygous carriers could develop severe ketoacidotic episodes in conjunction with ketogenic stresses

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