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The Capital Region of Denmark - a part of Copenhagen University Hospital
  1. 2020
  2. Published
  3. Published
  4. Published

    The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis

    Hennermann, J. B., Guffon, N., Cattaneo, F., Ceravolo, F., Borgwardt, L., Lund, A. M., Gil-Campos, M., Tylki-Szymanska, A. & Muschol, N. M., 29 Sep 2020, In: Orphanet Journal of Rare Diseases. 15, 1, p. 271

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Published

    Genotype-phenotype associations in PPGLs in 59 patients with variants in SDHX genes

    Main, A. M., Rossing, M., Borgwardt, L., Grønkær Toft, B., Rasmussen, Å. K. & Feldt-Rasmussen, U., Aug 2020, In: Endocrine Connections. 9, 8, p. 793-803 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. Published

    Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis

    Phillips, D., Hennermann, J. B., Tylki-Szymanska, A., Borgwardt, L., Gil-Campos, M., Guffon, N., Amraoui, Y., Geraci, S., Ardigò, D., Cattaneo, F. & Lund, A. M., Jun 2020, In: Molecular Genetics and Metabolism Reports. 23, p. 100586

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. Published
  8. Published
  9. 2018
  10. Published

    Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis

    Lund, A. M., Borgwardt, L., Cattaneo, F., Ardigò, D., Geraci, S., Gil-Campos, M., De Meirleir, L., Laroche, C., Dolhem, P., Cole, D., Tylki-Szymanska, A., Lopez-Rodriguez, M., Guillén-Navarro, E., Dali, C. I., Héron, B., Fogh, J., Muschol, N., Phillips, D., Van den Hout, J. M. H., Jones, S. A., Amraoui, Y., Harmatz, P. & Guffon, N., Nov 2018, In: Journal of Inherited Metabolic Disease. 41, 6, p. 1225-1233 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. Published

    Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial

    Borgwardt, L., Guffon, N., Amraoui, Y., Dali, C. I., De Meirleir, L., Gil-Campos, M., Heron, B., Geraci, S., Ardigò, D., Cattaneo, F., Fogh, J., Van den Hout, J. M. H., Beck, M., Jones, S. A., Tylki-Szymanska, A., Haugsted, U. & Lund, A. M., Nov 2018, In: Journal of Inherited Metabolic Disease. 41, 6, p. 1215-1223 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. Published

    Enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase): Novel global treatment response model and outcomes in patients with alpha-mannosidosis

    Harmatz, P., Cattaneo, F., Ardigò, D., Geraci, S., Hennermann, J. B., Guffon, N., Lund, A., Hendriksz, C. J. & Borgwardt, L., Jun 2018, In: Molecular Genetics and Metabolism. 124, 2, p. 152-160 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. 2016
  14. Published

    Alpha-mannosidosis: characterization of CNS pathology and correlation between CNS pathology and cognitive function

    Borgwardt, L. G., Danielsen, E. R., Thomsen, C., Månsson, J. E., Taouatas, N., Thuesen, A. M., Olsen, K. J., Fogh, J., Dali, C. I. & Lund, A., Apr 2016, In: Clinical Genetics. 89, 4, p. 489-494

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. 2015
  16. Published

    Cognitive profile and activities of daily living: 35 patients with alpha-mannosidosis

    Borgwardt, L. G., Thuesen, A. M., Olsen, K. J., Fogh, J., Dali, C. I. & Lund, A., Nov 2015, In: Journal of Inherited Metabolic Disease. 38, 6, p. 1119-27 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. Published
  18. Published

    Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation

    Borgwardt, L., Stensland, H. M. F. R., Olsen, K. J., Wibrand, F., Klenow, H. B., Beck, M., Amraoui, Y., Arash, L., Fogh, J., Nilssen, Ø., Dali, C. I. & Lund, A. M., 2015, In: Orphanet Journal of Rare Diseases. 10, p. 70

    Research output: Contribution to journalJournal articleResearchpeer-review

  19. 2014
  20. Published

    Alpha-mannosidosis - a review of genetic, clinical findings and options of treatment

    Borgwardt, L., Lund, A. M. & Dali, C. I., Sep 2014, In: Pediatric Endocrinology Reviews. 12 Suppl 1, p. 185-91 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. 2013
  22. Published

    Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study

    Borgwardt, L. G., Dali, C. I., Fogh, J., Månsson, J., Olsen, K. J., Beck, H., Nielsen, K. G., Nielsen, L. H., Olsen, S. O. E., Riise Stensland, H. M. F., Nilssen, O., Wibrand, F., Thuesen, A-M., Pearl, T., Haugsted, U., Saftig, P., Blanz, J., Jones, S., Tylki-Szymanska, A., Guffon-Fouiloux, N., Beck, M. V. & Lund, A. M., Nov 2013, In: Journal of Inherited Metabolic Disease. 36, 6, p. 1015-24 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  23. Published

    Fabry disease in children: agalsidase-beta enzyme replacement therapy

    Borgwardt, L. G., Feldt-Rasmussen, U., Rasmussen, A. K., Ballegaard, M. & Lund, A. M., 2013, In: Clinical Genetics. 83, 5, p. 432-38 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  24. 2011
  25. Published

    Anesthesia for patients with alpha-mannosidosis--a case series of 10 patients

    Hallas, P., Borgwardt, L. G., Roed, J., Lauritsen, T., Dali, C. I. & Lund, A. M., 2011, In: Paediatric Anaesthesia. 21, 12, p. 1269-70 2 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  26. 2010
  27. Published

    Estimating GFR in children with 99mTc-DTPA renography: a comparison with single-sample 51Cr-EDTA clearance

    Borgwardt, H. G., Møller, M. L., Pfeifer, A. K., Thorup, J. M., Borgwardt, L., Borgwardt, L., Kristoffersen, U. S. & Kjær, A., 1 May 2010, In: Clinical Physiology and Functional Imaging. 30, 3, p. 169-74 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 59423306