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Akira Ohtake

Saitama Medical University

SCHOLARLY PAPERS

2

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182

TOTAL CITATIONS

0

Scholarly Papers (2)

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1.

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
Downloads 117 (608,822)

Abstract:

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mitochondrial disease, mitochondrial DNA depletion syndrome, mitochondrial respiratory chain complex deficiencies, Sengers Syndrome, Genetic analysis

2.

​Quantification of glycosaminoglycans in dried blood spots, and evaluation of its usefulness as a secondary newborn screening test for mucopolysaccharidosis

Number of pages: 18 Posted: 24 Nov 2025
Wataru Oboshi, Asami Hirakiyama, Masahiro Miura, Hikaru Omachi, Misa Tanaka, Joo-Hyun Seo, Akira Ohtake, Yoshimitsu Osawa, Mika Ishige, Motomichi Kosuga, Takeshi Munenaga, Ohsuke MIGITA, Hiromi Nyuzuki, Hideo Sasai, Tokiko Fukuda, Shinichiro Sano, Tetsuya Ito, Ryosuke Bo, Yasuhiro Takeshima, Hiroyuki Esaki, Takahito Inoue, Shinichiro Nagamitsu, Yoriko Watanabe, Kimitoshi Nakamura, Hirotake Sawada, Shinsuke Maruyama, Kei Murayama and Torayuki Okuyama
affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, Saitama University - Saitama Medical University, Saitama University - Saitama Medical University, Saitama Medical University, affiliation not provided to SSRN, affiliation not provided to SSRN, National Center for Child Health and Development, affiliation not provided to SSRN, University of Tsukuba - Department of Child Health, Niigata University - Graduate School of Medical and Dental Sciences, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, Fujita Health University, affiliation not provided to SSRN, Hyogo Medical University, Sasebo City General Hospital, Fukuoka University, affiliation not provided to SSRN, affiliation not provided to SSRN, Kumamoto University, University of Miyazaki, Kagoshima University, affiliation not provided to SSRN and Saitama University - Saitama Medical University
Downloads 65 (924,743)

Abstract:

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dermatan sulfate, glycosaminoglycan, Heparan sulfate, keratan sulfate, Mucopolysaccharidosis, newborn screening