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