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Literature summary for 3.1.6.13 extracted from

  • Mashima, R.; Ohira, M.; Okuyama, T.; Tatsumi, A.
    Quantification of the enzyme activities of iduronate-2-sulfatase, N-acetylgalactosamine-6-sulfatase and N-acetylgalactosamine-4-sulfatase using liquid chromatography-tandem mass spectrometry (2018), Mol. Genet. Metab. Rep., 14, 36-40 .
    View publication on PubMedView publication on EuropePMC
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Application

Application Comment Organism
medicine application of a combined assay for defects in iduronate-2-sulfatase (ID2S) leading to mucopolysaccharidosis II, and N-acetylgalactosamine-6-sulfatase (GALN) and N-acetylgalactosamine-4-sulfatase (ARSB) defects related to mucopolysaccharidosis IVA and MPS VI, respectively. The average enzyme activities of ID2S, GALN, and ARSB in random neonates are 19.6, 1.7, and 13.4 micromol/h/l, respectively. The average enzyme activities of ID2S, GALN, and ARSB in disease-affected individuals are 0.5, 0.3, and 0.3 micromol/h/l, respectively Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P22304
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