Trusted Resources: Education

Scientific literature and patient education texts

Detecting Lysosomal Storage Disorders By Glycomic Profiling Using Liquid Chromatography Mass Spectrometry

key information

source: Molecular genetics and metabolism

authors: Mak J,Cowan TM

summary/abstract:

Urine and plasma biomarker testing for lysosomal storage disorders by liquid chromatography mass spectrometry (LC-MS) currently requires multiple analytical methods to detect the abnormal accumulation of oligosaccharides, mucopolysaccharides, and glycolipids. To improve clinical testing efficiency, we developed a single LC-MS method to simultaneously identify disorders of oligosaccharide, mucopolysaccharide, and glycolipid metabolism with minimal sample preparation.

organization: Clinical Biochemical Genetics Laboratory, Stanford Health Care, United States of America. Electronic address: jmak@stanfordhealthcare.org.

DOI: 10.1016/j.ymgme.2021.08.006

read more