Detection of Mucopolysaccharidosis Type II by Measurement of Iduronate-2-Sulfatase in Dried Blood Spots and Plasma Samples | Zendy

Caroline Dean | Zendy; Michelle Bockmann | Zendy; John J. Hopwood | Zendy; Doug A. Brooks | Zendy; Peter J. Meikle | Zendy

Open Access

Detection of Mucopolysaccharidosis Type II by Measurement of Iduronate-2-Sulfatase in Dried Blood Spots and Plasma Samples

Author(s) -

Caroline Dean,

Michelle Bockmann,

John J. Hopwood,

Doug A. Brooks,

Peter J. Meikle

Publication year - 2006

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.2005.061838

Subject(s) - mucopolysaccharidosis type ii , dried blood , spots , dried blood spot , chemistry , enzyme replacement therapy , immunoassay , chromatography , enzyme , enzyme assay , blood plasma , mucopolysaccharidosis , hunter syndrome , whole blood , newborn screening , microtiter plate , antibody , microbiology and biotechnology , biochemistry , medicine , immunology , biology , disease

Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disorder related to a deficiency in the enzyme iduronate-2-sulfatase (IDS). Clinical trials of enzyme replacement therapy are in progress, but effective treatment will require screening assays to enable early detection and diagnosis of MPS II. Our study evaluated the diagnostic accuracy of IDS protein and enzyme activity measurements in dried blood spots and plasma.

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