Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
  1. 2018
  2. Published
  3. Published
  4. 2017
  5. Published

    Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas: a case study

    Jeppesen, T. D., Al-Hashimi, N., Duno, M., Wibrand, F., Andersen, G. & Vissing, J., Dec 2017, In : AACE clinical case reports. 5, 12, p. 2034-2039 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. Published

    The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease

    Hasholt, L., Ballegaard, M., Bundgaard, H., Christiansen, M., Law, I., Lund, A. M., Norremolle, A., Krogh Rasmussen, A., Ravn, K., Tumer, Z., Wibrand, F. & Feldt-Rasmussen, U., Dec 2017, In : Scandinavian Journal of Clinical and Laboratory Investigation. 77, 8, p. 617-621 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. Published
  8. Published

    Leber hereditary optic neuropathy due to a new ND1 mutation

    Soldath, P., Wegener, M., Sander, B., Rosenberg, T., Duno, M., Wibrand, F. & Vissing, J., 1 Feb 2017, In : Ophthalmic Genetics. 38, 5, p. 480-485 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. 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

  10. Published
  11. Published

    Splenomegaly - Diagnostic validity, work-up, and underlying causes

    Curovic Rotbain, E., Lund Hansen, D., Schaffalitzky de Muckadell, O., Wibrand, F., Meldgaard Lund, A. & Frederiksen, H., 2017, In : P L o S One. 12, 11, p. e0186674

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. 2016
  13. 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

  14. Published

    Hearing impairment and renal failure associated with RMND1 mutations

    Ravn, K., Neland, M., Wibrand, F., Duno, M. & Ostergaard, E., 2016, In : American Journal of Medical Genetics. Part A. 170, 1, p. 142-147

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. Published

    Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients

    Carrozzo, R., Verrigni, D., Rasmussen, M., de Coo, R., Amartino, H., Bianchi, M., Buhas, D., Mesli, S., Naess, K., Born, A. P., Woldseth, B., Prontera, P., Batbayli, M., Ravn, K., Joensen, F., Cordelli, D. M., Santorelli, F. M., Tulinius, M., Darin, N., Duno, M., Jouvencel, P., Burlina, A., Stangoni, G., Bertini, E., Redonnet-Vernhet, I., Wibrand, F., Dionisi-Vici, C., Uusimaa, J., Vieira, P., Osorio, A. N., McFarland, R., Taylor, R. W., Holme, E. & Ostergaard, E., 2016, In : Journal of Inherited Metabolic Disease. 39, 2, p. 243-52

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. 2015
  17. Published

    Residual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency.

    Rasmussen, J., Lund, A. M., Risom, L., Wibrand, F., Gislason, H., Wendelboe Nielsen, O., Køber, L. & Dunø, M., 22 May 2015, In : Molecular Genetics and Metabolism Reports. 1, p. 241-248

    Research output: Contribution to journalJournal articleResearchpeer-review

  18. Published

    CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Cataract, Neutropenia, Epilepsy, and Methylglutaconic Aciduria

    Saunders, C., Smith, L., Wibrand, F., Ravn, K., Bross, P., Thiffault, I., Christensen, M., Atherton, A., Farrow, E., Miller, N., Kingsmore, S. F. & Ostergaard, E., 5 Feb 2015, In : American Journal of Human Genetics. 96, 2, p. 258-65 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  19. Published

    Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature

    Ostergaard, E., Weraarpachai, W., Ravn, K., Born, A. P., Jønson, L., Duno, M., Wibrand, F., Shoubridge, E. A. & Vissing, J., 20 Jan 2015, In : Journal of Medical Genetics. 52, 3, p. 203-07

    Research output: Contribution to journalJournal articleResearchpeer-review

  20. Published
  21. 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

  22. 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

  23. Published

    Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations

    Ravn, K., Schönewolf-Greulich, B., Hansen, R. M., Bohr, A-H., Dunø, M., Wibrand, F. & Østergaard, E., 2015, In : Molecular Genetics and Metabolism Reports. 3, p. 5-10

    Research output: Contribution to journalJournal articleResearchpeer-review

  24. Published

    Taurine and regulation of mitochondrial metabolism

    Hansen, S. H., Birkedal, H., Wibrand, F. & Grunnet, N., 2015, In : Advances in Experimental Medicine and Biology. 803, p. 397-405 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  25. 2014
  26. Published

    A novel de novo mutation of the mitochondrial tRNA(lys) gene mt.8340G>A associated with pure myopathy

    Jeppesen, T. D., Duno, M., Risom, L., Wibrand, F., Rafiq, J., Krag, T., Jakobsen, J., Andersen, H. & Vissing, J., Feb 2014, In : Neuromuscular disorders : NMD. 24, 2, p. 162-6 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  27. 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

  28. 2013
  29. 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

  30. Published

    The cytochrome b p.278Y>C mutation causative of a multisystem disorder enhances superoxide production and alters supramolecular interactions of respiratory chain complexes

    Ghelli, A., Tropeano, C. V., Calvaruso, M. A., Marchesini, A., Iommarini, L., Porcelli, A. M., Zanna, C., De Nardo, V., Martinuzzi, A., Wibrand, F., Vissing, J., Kurelac, I., Gasparre, G., Selamoglu, N., Daldal, F. & Rugolo, M., 1 Jun 2013, In : Human Molecular Genetics. 22, 11, p. 2141-51 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  31. Published

    Recurrent myoglobinuria and deranged acylcarnitines due to a mutation in the mtDNA MT-CO2 gene

    Vissing, C. R., Duno, M., Olesen, J. H., Rafiq, J., Risom, L., Christensen, E., Wibrand, F. & Vissing, J., 14 May 2013, In : Neurology. 80, 20, p. 1908-10 3 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  32. Published

    A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - The NARP syndrome

    Duno, M., Wibrand, F., Baggesen, K. L., Rosenberg, T., Kjaer, N. & Frederiksen, A. L., 2013, In : Gene. 515, 2, p. 372-5 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  33. Published

    A Patient With Pyruvate Carboxylase Deficiency and Nemaline Rods on Muscle Biopsy

    Unal, O., Orhan, D., Ostergaard, E., Tokatli, A., Dursun, A., Ozturk-Hismi, B., Coskun, T., Wibrand, F. & Kalkanoglu-Sivri, H. S., 2013, In : Journal of Child Neurology. 28, 11, p. 1505-08

    Research output: Contribution to journalJournal articleResearchpeer-review

  34. 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

  35. 2012
  36. 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

  37. Published

    Biomarkers of mitochondrial content in skeletal muscle of healthy young human subjects

    Larsen, S., Nielsen, J., Hansen, C. N., Nielsen, L. B., Wibrand, F., Stride, N. O., Schroder, H. D., Boushel, R. C., Helge, J. W., Dela, F. & Hey-Mogensen, M., 2012, In : Journal of Physiology. 590, Pt 14, p. 3349-60 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  38. 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

  39. 2011
  40. Published

    Clinical presentation and mutations in Danish patients with Wilson disease

    Møller, L. B., Horn, N., Jeppesen, T. D., Vissing, J., Wibrand, F., Jennum, P. & Ott, P., 2011, In : European Journal of Human Genetics. 19, 9, p. 935-41 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  41. Published

    Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" α-galactosidase a large deletion

    Feldt-Rasmussen, U., Dobrovolny, R., Nazarenko, I., Ballegaard, M., Hasholt, L. F., Rasmussen, A. K., Christensen, E. I., Sorensen, S. S., Wibrand, F. & Desnick, R. J., 2011, In : Molecular Genetics and Metabolism. 104, 3, p. 314-8 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  42. Published

    Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome

    Ostergaard, E., Rodenburg, R. J., van den Brand, M., Thomsen, L. L., Duno, M., Batbayli, M., Wibrand, F. & Nijtmans, L., 2011, In : Journal of Medical Genetics. 48, 11, p. 737-40 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  43. 2010
  44. Published

    Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect

    Antonicka, H., Østergaard, E., Sasarman, F., Weraarpachai, W., Wibrand, F., Pedersen, A. M. B., Rodenburg, R. J., van der Knaap, M. S., Smeitink, J. A. M., Chrzanowska-Lightowlers, Z. M. & Shoubridge, E. A., 9 Jul 2010, In : American Journal of Human Genetics. 87, 1, p. 115-22 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  45. Published

    Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria

    Pedersen, C. B., Zolkipli, Z., Vang, S., Palmfeldt, J., Kjeldsen, M., Stenbroen, V., Schmidt, S. P., Wanders, R. J. A., Ruiter, J. P. N., Wibrand, F., Tein, I. & Gregersen, N., 1 Jun 2010, In : Journal of Inherited Metabolic Disease. 33, 3, p. 211-22 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  46. Published

    Limited diagnostic value of enzyme analysis in patients with mitochondrial tRNA mutations

    Wibrand, F., Jeppesen, T. D., Frederiksen, A. L., Olsen, D. H., Dunø, M., Schwartz, M. & Vissing, J., 1 May 2010, In : Muscle & Nerve. 41, 5, p. 607-13 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 9032