Trusted Resources: Education
Scientific literature and patient education texts
Detecting Lysosomal Storage Disorders By Glycomic Profiling Using Liquid Chromatography Mass Spectrometry
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
Related Content
-
Prenatal Diagnosis of Mucopolysaccharidoses Type II by Two-Dimensional Electrophoresis and Mass Spectrometry in Amni...To introduce a quantitative determinatio...
-
Understanding Mucopolysaccharidosis Type VII (MPS VII) or Sly SyndromeMPS VII, also called Sly syndrome, is a ...
-
Mucopolysaccharidosis (MPS)https://slideplayer.com/slide/17257432/...
-
Macular Changes in a Mucopolysaccharidosis Type I Patient With Earlier Systemic TherapiesTo describe retinal findings in a patien...
-
MPSBase: Comprehensive Repository of Differentially Expressed Genes for MucopolysaccharidosesMucopolysaccharidoses (MPS) are lysosoma...
-
Elizabeth F. Neufeld, PhDBorn in France, Elizabeth Neufeld immigr...
-
Fetal Therapies and Trials for Lysosomal Storage Diseases: A Survey of Attitudes of Parents and PatientsLysosomal storage diseases (LSDs) are in...