Genetic & Genomic MedicinemedRxivPreprint
Dried blood spot proteomics as a diagnostic framework for citrin deficiency
Eriko Totsune, Daisuke Nakajima, Ryo Konno…·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.
DOI 10.64898/2026.05.26.26354012