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., and Randolph, L. M. (2024). A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis. Genes & Diseases 11:101025.PUB | 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., Bäumges, H., Mahan, M. J., Lübke, T., et al. (2023). Establishment of Blood Glycosidase Activities and their Excursions in Sepsis. Glycobiology 33, 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., and Randolph, L. M. (2023). A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis. Genes & Diseases.PUB | 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., Bäumges, H., Mahan, M. J., Lübke, T., et al. (2022). Establishment of Blood Glycosidase Activities and their Excursions in Sepsis. Glycobiology 32, 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., Mahan, M. J., Lübke, T., and Marth, J. D. (2022). Establishment of blood glycosidase activities and their excursions in sepsis. PNAS Nexus 1:pgac113.PUB | 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., Ilse, M. - B., Lübke, T., and Marth, J. D. (2021). Excursions of blood glycosidase activities in the pathogenesis and prognosis of Sepsis. Glycobiology 31, 1700.PUB | 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., Sproß, J., Vaz, F. M., Kircher, S. G., et al. (2021). Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency. Journal of Medical Genetics:jmedgenet-2021-108061.PUB | 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., Ilse, M. - B., Lübke, T., and Marth, J. (2020). “Altered glycosidase Activities at Physiological pH in the Pathogenesis of Sepsis” in FASEB JOURNAL, vol. 34, (Hoboken: Wiley).PUB | DOI | WoS