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Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency.
Verheyen S, Blatterer J, Speicher MR, Bhavani GS, Boons GJ, Ilse MB, Andrae D, Sproß J, Vaz FM, Kircher SG, Posch-Pertl L, Baumgartner D, Lübke T, Shah H, Al Kaissi A, Girisha KM, Plecko B. Verheyen S, et al. Among authors: boons gj. J Med Genet. 2022 Oct;59(10):957-964. doi: 10.1136/jmedgenet-2021-108061. Epub 2021 Dec 16. J Med Genet. 2022. PMID: 34916232 Free PMC article.
Arylsulfatase K is the Lysosomal 2-Sulfoglucuronate Sulfatase.
Dhamale OP, Lawrence R, Wiegmann EM, Shah BA, Al-Mafraji K, Lamanna WC, Lübke T, Dierks T, Boons GJ, Esko JD. Dhamale OP, et al. Among authors: boons gj. ACS Chem Biol. 2017 Feb 17;12(2):367-373. doi: 10.1021/acschembio.6b01033. Epub 2017 Jan 17. ACS Chem Biol. 2017. PMID: 28055182 Free PMC article.
Sequencing Heparan Sulfate Using HILIC LC-NETD-MS/MS.
Wu J, Wei J, Chopra P, Boons GJ, Lin C, Zaia J. Wu J, et al. Among authors: boons gj. Anal Chem. 2019 Sep 17;91(18):11738-11746. doi: 10.1021/acs.analchem.9b02313. Epub 2019 Aug 29. Anal Chem. 2019. PMID: 31423779 Free PMC article.
311 results