Oligosaccharide Analysis in Urine by MALDI-TOF Mass Spectrometry for the Diagnosis of Lysosomal Storage Diseases | Zendy

Baoyun Xia | Zendy; Ghazia Asif | Zendy; Leonard Arthur | Zendy; Muhammad Pervaiz | Zendy; Xueli Li | Zendy; Renpeng Liu | Zendy; Richard D. Cummings | Zendy; Miao He | Zendy

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Oligosaccharide Analysis in Urine by MALDI-TOF Mass Spectrometry for the Diagnosis of Lysosomal Storage Diseases

Author(s) -

Baoyun Xia,

Ghazia Asif,

Leonard Arthur,

Muhammad Pervaiz,

Xueli Li,

Renpeng Liu,

Richard D. Cummings,

Miao He

Publication year - 2013

Publication title -

clinical chemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.705

H-Index - 218

eISSN - 1530-8561

pISSN - 0009-9147

DOI - 10.1373/clinchem.2012.201053

Subject(s) - urine , chemistry , lysosomal storage disease , mucolipidosis , urinary system , oligosaccharide , mass spectrometry , chromatography , glucuronidase , biochemistry , enzyme , endocrinology , biology

There are 45 known genetic diseases that impair the lysosomal degradation of macromolecules. The loss of a single lysosomal hydrolase leads to the accumulation of its undegraded substrates in tissues and increases of related glycoconjugates in urine, some of which can be detected by screening of free oligosaccharides (FOS) in urine. Traditional 1-dimensional TLC for urine oligosaccharide analysis has limited analytical specificity and sensitivity. We developed fast and robust urinary FOS and glycoaminoacid analyses by MALDI-time-of-flight/time-of-flight (MALDI-TOF/TOF) mass spectrometry for the diagnosis of oligosaccharidoses and other lysosomal storage diseases.

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