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• [8]
  

  2024 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2987979

  Sun, Miao, Kaminsky, Cornelia K., Deppe, Philip, Ilse, Mai-Britt, Vaz, Frédéric M., Plecko, Barbara, Lübke, Torben, and Randolph, Linda M. “A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis”. Genes & Diseases 11.3 (2024): 101025.

  PUB | DOI
   
• [7]
  

  2023 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2988232

  Smith, Kathryn, Haslund-Gourley, Benjamin S., Aziz, Peter V., Heithoff, Douglas M., Restagno, Damien, Fried, Jeffrey C., Ilse, Mai-Britt, Bäumges, Hannah, Mahan, Michael J., Lübke, Torben, and Marth, Jamey D. “Establishment of Blood Glycosidase Activities and their Excursions in Sepsis”. Glycobiology 33.11 (2023): 1016.

  PUB | WoS
   
• [6]
  

  2023 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2981846

  Sun, Miao, Kaminsky, Cornelia K., Deppe, Philip, Ilse, Mai-Britt, Vaz, Frédéric M., Plecko, Barbara, Lübke, Torben, and Randolph, Linda M. “A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis”. Genes & Diseases (2023).

  PUB | DOI | PubMed | Europe PMC
   
• [5]
  

  2022 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2967253

  Smith, Kathryn, Haslund-Gourley, Benjamin S., Aziz, Peter V., Heithoff, Douglas M., Restagno, Damien, Fried, Jeffrey C., Ilse, Mai-Britt, Bäumges, Hannah, Mahan, Michael J., Lübke, Torben, and Marth, Jamey D. “Establishment of Blood Glycosidase Activities and their Excursions in Sepsis”. Glycobiology 32.11 (2022): 1034-1035.

  PUB | WoS
   
• [4]
  

  2022 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2965167

  Haslund-Gourley, Benjamin S, Aziz, Peter V, Heithoff, Douglas M, Restagno, Damien, Fried, Jeffrey C, Ilse, Mai-Britt, Bäumges, Hannah, Mahan, Michael J, Lübke, Torben, and Marth, Jamey D. “Establishment of blood glycosidase activities and their excursions in sepsis”. PNAS Nexus 1.3 (2022): pgac113.

  PUB | DOI | PubMed | Europe PMC
   
• [3]
  

  2021 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2961637

  Aziz, Peter V., Lewis, Benjamin J., Haslund-Gourley, Benjamin S., Heithoff, Douglas M., Westman, Julia S., Restagno, Damien, Fried, Jeffrey C., Ilse, Mai-Britt, Lübke, Torben, and Marth, Jamey D. “Excursions of blood glycosidase activities in the pathogenesis and prognosis of Sepsis”. Glycobiology 31.12 (2021): 1700.

  PUB | DOI | WoS
   
• [2]
  

  2021 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2960244

  Verheyen, Sarah, Blatterer, Jasmin, Speicher, Michael R, Bhavani, Gandham SriLakshmi, Boons, Geert-Jan, Ilse, Mai-Britt, Andrae, Dominik, Sproß, Jens, Vaz, Frédéric Maxime, Kircher, Susanne G, Posch-Pertl, Laura, Baumgartner, Daniela, Lübke, Torben, Shah, Hitesh, Al Kaissi, Ali, Girisha, Katta M, and Plecko, Barbara. “Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency”. Journal of Medical Genetics (2021): jmedgenet-2021-108061.

  PUB | PDF | DOI | WoS | PubMed | Europe PMC
   
• [1]
  

  2020 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2946513

  Aziz, Peter, Haslund-Gourley, Benjamin, Heithoff, Douglas, Westman, Julia, Restagno, Damien, Lewis, Benjamin, Fried, Jeffrey, Ilse, Mai-Britt, Lübke, Torben, and Marth, Jamey. “Altered glycosidase Activities at Physiological pH in the Pathogenesis of Sepsis”. FASEB JOURNAL. Hoboken: Wiley, 2020.Vol. 34.

  PUB | DOI | WoS