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The Capital Region of Denmark - a part of Copenhagen University Hospital

JIMD Reports, 2192-8304

Journal

  1. 2020
  2. Published

    Impaired lipolysis in propionic acidemia: A new metabolic myopathy?

    Storgaard, J. H., Madsen, K. L., Løkken, N., Vissing, J., van Hall, G., Lund, A. M. & Ørngreen, M. C., May 2020, In: JIMD Reports. 53, 1, p. 16-21 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. 2019
  4. Published

    Genotype and phenotype classification of 29 patients affected by Krabbe disease

    Madsen, A. M. H., Wibrand, F., Lund, A. M., Ek, J., Dunø, M. & Østergaard, E., Mar 2019, In: JIMD Reports. 46, 1, p. 35-45 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Published

    Impaired fat oxidation during exercise in multiple acyl-CoA dehydrogenase deficiency

    Madsen, K. L., Preisler, N., Buch, A. E., Stemmerik, M. G., Laforêt, P. & Vissing, J., Mar 2019, In: JIMD Reports. 46, 1, p. 79-84 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. Published

    Diagnostic pitfalls in vitamin B6-dependent epilepsy caused by mutations in the PLPBP gene

    Jensen, K. V., Frid, M., Stödberg, T., Barbaro, M., Wedell, A., Christensen, M., Bak, M., Ek, J., Madsen, C. G., Darin, N. & Grønborg, S., 2019, In: JIMD Reports. 50, 1, p. 1-8 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

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

    Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry

    Wilcox, W. R., Feldt-Rasmussen, U., Martins, A. M., Ortiz, A., Lemay, R. M., Jovanovic, A., Germain, D. P., Varas, C., Nicholls, K., Weidemann, F. & Hopkin, R. J., 2018, In: JIMD Reports. 38, p. 45-51

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. 2017
  12. Published

    Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling

    Grønborg, S., Darin, N., Miranda, M. J., Damgaard, B., Cayuela, J. A., Oldfors, A., Kollberg, G., Hansen, T. V. O., Ravn, K., Wibrand, F. & Østergaard, E., 2017, In: JIMD Reports. 33, p. 69-77

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. Published

    Prevalence of Mucopolysaccharidosis Types I, II, and VI in the Pediatric and Adult Population with Carpal Tunnel Syndrome (CTS). Retrospective and Prospective Analysis of Patients Treated for CTS

    Nørmark, M. B., Kjaer, N. & Lund, A. M., 2017, In: JIMD Reports. 36, p. 29-33 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. Published

    Primary Carnitine Deficiency: Is Foetal Development Affected and Can Newborn Screening Be Improved?

    Rasmussen, J., Hougaard, D. M., Sandhu, N., Fjællegaard, K., Petersen, P. R., Steuerwald, U. & Lund, A. M., 2017, In: JIMD Reports. 36, p. 35-40 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. 2016
  16. Published

    Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation

    Rafiq, J., Duno, M., Østergaard, E., Ravn, K., Vissing, C. R., Wibrand, F. & Vissing, J., 2016, In: JIMD Reports. 25, p. 65-70

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. 2015
  18. Published

    Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency

    Aksglaede, L., Christensen, M., Olesen, J. H., Duno, M., Olsen, R. K. J., Andresen, B. S., Hougaard, D. M. & Lund, A. M., 13 Mar 2015, In: JIMD Reports. 23, p. 67-70

    Research output: Contribution to journalJournal articleResearchpeer-review

  19. Published

    Is L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency?

    Thomsen, J. A., Lund, A. M., Olesen, J. H., Mohr, M. & Rasmussen, J., 3 Mar 2015, In: JIMD Reports. 21, p. 79-88

    Research output: Contribution to journalJournal articleResearchpeer-review

  20. Published

    Carnitine levels in skeletal muscle, blood, and urine in patients with primary carnitine deficiency during intermission of L-carnitine supplementation

    Rasmussen, J., Thomsen, J. A., Olesen, J. H., Lund, T. M., Mohr, M., Clementsen, J., Nielsen, O. W. & Lund, A. M., 2015, In: JIMD Reports. 20, p. 103-11 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. Published

    Mild Lesch-Nyhan Disease in a Boy with a Null Mutation inHPRT1: An Exception to the Known Genotype-Phenotype Correlation

    Bayat, A., Christensen, M., Wibrand, F., Duno, M. & Lund, A., 2015, In: JIMD Reports. 18, p. 135-37

    Research output: Contribution to journalJournal articleResearchpeer-review

  22. 2014
  23. Published

    A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment

    Nouws, J., Wibrand, F., van den Brand, M., Venselaar, H., Duno, M., Lund, A. M., Trautner, S., Nijtmans, L. & Østergaard, E., 2014, In: JIMD Reports. 12, p. 37-45 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  24. 2013
  25. Published

    Cerebral Magnetic Resonance Spectroscopy Demonstrates Long-Term Effect of Bone Marrow Transplantation in α-Mannosidosis

    Danielsen, E. R., Lund, A. M. & Thomsen, C., 2013, In: JIMD Reports. 11, p. 49-52 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  26. Published

    Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency

    Ostergaard, E., Duno, M., Møller, L. B., Kalkanoglu-Sivri, H. S., Dursun, A., Aliefendioglu, D., Leth, H. B., Dahl, M., Christensen, E. & Wibrand, F., 2013, In: JIMD Reports. 9, p. 1-5 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  27. 2012
  28. Published

    Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient

    Coutinho, M. F., da Silva Santos, L., Lacerda, L., Quental, S., Wibrand, F., Lund, A. M., Johansen, K. B., Prata, M. J. & Alves, S., 2012, In: JIMD Reports. 4, p. 117-124 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  29. Published

    Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Newborn Screening in Denmark

    Borch, L., Lund, A., Wibrand, F., Christensen, E., Søndergaard, C., Gahrn, B., Hougaard, D. M., Andresen, B. S., Gregersen, N. & Olsen, R. K. J., 2012, In: JIMD Reports. 3, p. 11-15 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  30. Published

    Recommendations on reintroduction of agalsidase Beta for patients with fabry disease in europe, following a period of shortage

    Linthorst, G. E., Burlina, A. P., Cecchi, F., Cox, T. M., Fletcher, J. M., Feldt-Rasmussen, U., Giugliani, R., Hollak, C. E. M., Houge, G., Hughes, D., Kantola, I., Lachmann, R., Lopez, M., Ortiz, A., Parini, R., Rivera, A., Rolfs, A., Ramaswami, U., Svarstad, E., Tondel, C., Tylki-Szymanska, A., Vujkovac, B., Waldek, S., West, M., Weidemann, F. & Mehta, A., 2012, In: JIMD Reports. 8, p. 51-6 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 33286722