Research output per year
Research output per year
Personal profile
Expertises
Clinical Genetics
Main research areas
Lysosomale storage disorders. Alpha-mannosidosis
Current research
Alpha-mannosidosis
Alport Disease
Fingerprint
Dive into the research topics where Line Gutte Borgwardt is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Extended long-term efficacy and safety of velmanase alfa treatment up to 12 years in patients with alpha-mannosidosis
Guffon, N., Borgwardt, L., Tylki-Szymańska, A., Ballabeni, A., Donà, F., Joseph, A., Nienhuis, H., Maugeri, C. & Lund, A., Jan 2025, In: Journal of Inherited Metabolic Disease. 48, 1, e12799.Research output: Contribution to journal › Journal article › Research › peer-review
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Rare germline chromosome 1 duplication identified in young male with colon cancer: a case report investigating causality
Byrjalsen, A., Garcia, S. L., Borgwardt, L., Wadt, K., Gerdes, A. M. & van Overeem Hansen, T., 31 Oct 2024, In: Journal of gastrointestinal oncology. 15, 5, p. 2316-2322 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
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The association between single-nucleotide polymorphisms within type 1 interferon pathway genes and human immunodeficiency virus type 1 viral load in antiretroviral-naïve participants
Mørup, S. B., Leung, P., Reilly, C., Sherman, B. T., Chang, W., Milojevic, M., Milinkovic, A., Liappis, A., Borgwardt, L., Petoumenos, K., Paredes, R., Mistry, S. S., MacPherson, C. R., Lundgren, J., Helleberg, M., Reekie, J., Murray, D. D. & INSIGHT FIRST and START study groups, 3 May 2024, In: AIDS Research and Therapy. 21, 1, 27.Research output: Contribution to journal › Journal article › Research › peer-review
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Whole genome sequencing in clinical practice
Bagger, F. O., Borgwardt, L., Jespersen, A. S., Hansen, A. R., Bertelsen, B., Kodama, M. & Nielsen, F. C., 29 Jan 2024, In: BMC Medical Genomics. 17, 1, 16 p., 39.Research output: Contribution to journal › Review › peer-review
16 Citations (Scopus) -
A novel DOCK2 variant in siblings with severe combined immunodeficiency
Bruusgaard-Mouritsen, M. A., Masmas, T., Borgwardt, L., Nazaryan-Petersen, L., Heilmann, C., Madsen, H. O. & Marquart, H. V., Mar 2023, In: Scandinavian Journal of Immunology. 97, 3, 4 p., e13243.Research output: Contribution to journal › Letter › peer-review