Author

Tomoko Lee

Hyogo Medical UniversityORCID 0000-0002-1064-1202Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Assay:proteomics· 1

Frequent Co-Authors

Akihiro Kida· 1 shared Atsuo KikuchiiD· 1 shared Chieko Itoh· 1 shared Chika Takano-Asai· 1 shared Chikahiko NumakuraiD· 1 shared Daisuke NakajimaiD· 1 shared Eriko Totsune· 1 shared Hideo SasaiiD· 1 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Akihiro Kida

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2 papers

Recent·Most cited

Dried blood spot proteomics as a diagnostic framework for citrin deficiency

Eriko Totsune, Daisuke Nakajima, Ryo Konno, Yasuko Mikami-Saito, Natsuko Arai‐Ichinoi, Hikaru Nishida, Hiroko Yagi, Takashi Ishige, Hoshiro Suzuki, Matsuyuki Shirota, Jun Takayama, Chika Takano-Asai, Masaru Shimura, Hideo Sasai, Tomoko Lee, , Yoichi Wada

This paper develops a dried blood spot proteomics method to diagnose citrin deficiency by quantifying SLC25A13 and identifying a 15-protein signature with high accuracy.

medRxiv · May 28, 2026 · PreprintGenetic & Genomic Medicine

Natural history of serum creatine kinase levels and motor, pulmonary, and cardiac functions in 337 patients with Duchenne muscular dystrophy: a retrospective study at a single referral center in Japan

Hiroyuki Awano, Yoshinori Nambu, Chieko Itoh, Akihiro Kida, Tetsushi Yamamoto, Tomoko Lee, Yasuhiro Takeshima, Kandai Nozu, Masafumi Matsuo

This study examines the natural history of serum creatine kinase levels and motor, pulmonary, and cardiac functions in 337 Japanese DMD patients over 30 years.

Muscle & Nerve · Mar 21, 2024Peer-reviewedGenetic & Genomic Medicine