8 Publikationen
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2024 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2987979Sun, M., Kaminsky, C. K., Deppe, P., Ilse, M. - B., Vaz, F. M., Plecko, B., Lübke, T., et al. (2024). A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis. Genes & Diseases, 11(3), 101025. https://doi.org/10.1016/j.gendis.2023.06.003PUB | DOI
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2023 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2988232Smith, K., Haslund-Gourley, B. S., Aziz, P. V., Heithoff, D. M., Restagno, D., Fried, J. C., Ilse, M. - B., et al. (2023). Establishment of Blood Glycosidase Activities and their Excursions in Sepsis. Glycobiology, 33(11), 1016.PUB | WoS
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2023 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2981846Sun, M., Kaminsky, C. K., Deppe, P., Ilse, M. - B., Vaz, F. M., Plecko, B., Lübke, T., et al. (2023). A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis. Genes & Diseases. https://doi.org/10.1016/j.gendis.2023.06.003PUB | DOI | PubMed | Europe PMC
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2022 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2967253Smith, K., Haslund-Gourley, B. S., Aziz, P. V., Heithoff, D. M., Restagno, D., Fried, J. C., Ilse, M. - B., et al. (2022). Establishment of Blood Glycosidase Activities and their Excursions in Sepsis. Glycobiology , 32(11), 1034-1035.PUB | WoS
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2022 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2965167Haslund-Gourley, B. S., Aziz, P. V., Heithoff, D. M., Restagno, D., Fried, J. C., Ilse, M. - B., Bäumges, H., et al. (2022). Establishment of blood glycosidase activities and their excursions in sepsis. PNAS Nexus, 1(3), pgac113. https://doi.org/10.1093/pnasnexus/pgac113PUB | DOI | PubMed | Europe PMC
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2021 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2961637Aziz, P. V., Lewis, B. J., Haslund-Gourley, B. S., Heithoff, D. M., Westman, J. S., Restagno, D., Fried, J. C., et al. (2021). Excursions of blood glycosidase activities in the pathogenesis and prognosis of Sepsis. Glycobiology , 31(12), 1700. https://doi.org/10.1093/glycob/cwab121PUB | DOI | WoS
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2021 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2960244Verheyen, S., Blatterer, J., Speicher, M. R., Bhavani, G. S. L., Boons, G. - J., Ilse, M. - B., Andrae, D., et al. (2021). Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency. Journal of Medical Genetics, jmedgenet-2021-108061. https://doi.org/10.1136/jmedgenet-2021-108061PUB | PDF | DOI | WoS | PubMed | Europe PMC
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2020 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2946513Aziz, P., Haslund-Gourley, B., Heithoff, D., Westman, J., Restagno, D., Lewis, B., Fried, J., et al. (2020). Altered glycosidase Activities at Physiological pH in the Pathogenesis of Sepsis. FASEB JOURNAL, 34 Hoboken: Wiley. https://doi.org/10.1096/fasebj.2020.34.s1.07166PUB | DOI | WoS