Abstract

Oral Sessions

Day 3, May 21（Fri.）　14:45-15:25　Room A (Zoom)

3A-O11-1445　　PDF

Recent topics on novel biomarkers for lysosomal storage disorders

(¹Res. Inst. Child, ²Tohoku Univ. Hosp., ³Tohoku Univ.)
^oRyuichi Mashima¹, Masamitsu Maekawa^2,3, Mari Ohira¹, Nariyasu Mano^2,3, Torayuki Okuyama¹

Clinical biomarker has been attracted much attention due to its beneficial role in diagnosis and drug development. Mass spectrometric assay has greatly contributed for the discovery of novel biomarkers together with other technique such as chromatography, spectroscopy, and organic synthesis. This is also true for the diagnosis of lysosomal storage disorder, a group of congenic disorders with nearly 50 genes in human. Here, we would like to provide several topics on this clinical area with our experience.