Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)-Reference-Cited by-同舟云学术

Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)

Published:2010-10-20 Issue:22 Volume:82 Page:9587-9591
ISSN:0003-2700
Container-title:Analytical Chemistry
language:en
Short-container-title:Anal. Chem.

Author:

Duffey Trisha A.¹,Sadilek Martin¹,Scott C. Ronald¹,Turecek Frantisek¹,Gelb Michael H.¹

Affiliation:

1. Departments of Chemistry, Pediatrics, and Biochemistry, University of Washington, Seattle, Washington 98195, United States

Publisher

American Chemical Society (ACS)

Subject

Analytical Chemistry

Link

https://pubs.acs.org/doi/pdf/10.1021/ac102090v

Reference27 articles.

1. Neufeld, E. F. and Muenzer, J.The Mucopolysaccharidoses. InThe Metabolic and Molecular Bases of Inherited Disease;Scriver, C., Beaudet, A., and Sly, W., Eds.McGraw Hill:New York, 2001; pp3421−3452.

2. Maroteaux-lamy disease (mucopolysaccharidosis VI), subtype A: Deficiency of a N-acetylgalactosamine-4-sulfatase

3. Deficiency of chondroitin sulfate N-acetylgalactosamine 4-sulfate sulfatase in Maroteaux-Lamy syndrome

4. An N-acetylgalactosamine-4-sulfatase mutation (ΔG238) results in a severe Maroteaux-Lamy phenotype

5. Chromosomal localization of ARSB, the gene for human N-acetylgalactosamine-4-sulphatase

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