Quantification of the enzyme activities of iduronate-2-sulfatase, N-acetylgalactosamine-6-sulfatase and N-acetylgalactosamine-4-sulfatase using liquid chromatography-tandem mass spectrometry
Mucopolysaccharidosis (MPS) is a genetic disorder characterized by the accumulation of glycosaminoglycans in the body. Of the multiple MPS disease subtypes, several are caused by defects in sulfatases. Specifically, a defect in iduronate-2-sulfatase (ID2S) leads to MPS II, whereas N-acetylgalactosam...
Main Authors: | Ryuichi Mashima, Mari Ohira, Torayuki Okuyama, Akiya Tatsumi |
---|---|
Format: | Article |
Language: | English |
Published: |
Elsevier
2018-03-01
|
Series: | Molecular Genetics and Metabolism Reports |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426917301490 |
Similar Items
-
Structural and biochemical studies of the human lysosomal enzymes: N-acetylgalactosamine-6-sulfatase, N-sulfoglucosamine sulfohydrolase and β-galactosidase
by: Rivera Colon, Yadilette
Published: (2013) -
Molecular investigations of iduronate-2-sulfatase mutants.
Published: (2006) -
Polymorphisms in Tunisian patients with N-acetylgalactosamine-6-sulfate sulfatase gene deficiency: Implication in Morquio A disease
by: Chkioua Latifa, et al.
Published: (2011-01-01) -
Common N-acetylgalactosamine-6-sulfate sulfatase (GALNS) exon mutations in Brazilian patients with mucopolysaccharidosis IVA (MPS IVA)
by: Tatiana Dieter, et al.
Published: (2007-01-01) -
Structural Basis of Mucopolysaccharidosis Type II and Construction of a Database of Mutant Iduronate 2-Sulfatases.
by: Seiji Saito, et al.
Published: (2016-01-01)