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The Capital Region of Denmark - a part of Copenhagen University Hospital
  1. 2019
  2. Published

    Cardiac function and incidence of unexplained myocardial scarring in patients with primary carnitine deficiency - a cardiac magnetic resonance study

    Kyhl, K., Róin, T., Lund, A., Vejlstrup, N., Madsen, P. L., Engstrøm, T. & Rasmussen, J., 26 Sep 2019, In : Scientific Reports. 9, 1, p. 13909

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Published
  4. Published
  5. E-pub ahead of print

    Newborn screening for homocystinurias: recent recommendations versus current practice

    and individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD), 2019, In : Journal of Inherited Metabolic Disease.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. E-pub ahead of print
  7. E-pub ahead of print

    Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-a successful strategy for clinical research of rare diseases

    Additional individual contributors of the UCDC and the E-IMD consortium & Lund, A. M., 2019, In : Journal of Inherited Metabolic Disease.

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. 2018
  9. Published

    l-Carnitine Improves Skeletal Muscle Fat Oxidation in Primary Carnitine Deficiency

    Madsen, K. L., Preisler, N., Rasmussen, J., Hedermann, G., Olesen, J. H., Lund, A. M. & Vissing, J., 1 Dec 2018, In : The Journal of clinical endocrinology and metabolism. 103, 12, p. 4580-4588 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. Published

    Osteogenesis imperfecta and the teeth, eyes, and ears-a study of non-skeletal phenotypes in adults

    Hald, J. D., Folkestad, L., Swan, C. Z., Wanscher, J., Schmidt, M., Gjørup, H., Haubek, D., Leonhard, C-H., Larsen, D. A., Hjortdal, J. Ø., Harsløf, T., Duno, M., Lund, A. M., Jensen, J-E. B., Brixen, K. & Langdahl, B., 1 Dec 2018, In : Osteoporosis International. 29, 12, p. 2781-2789

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. Published

    International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome

    Parini, R., Broomfield, A., Cleary, M. A., De Meirleir, L., Di Rocco, M., Fathalla, W. M., Guffon, N., Lampe, C., Lund, A. M., Scarpa, M., Tylki-Szymańska, A. & Zeman, J., Dec 2018, In : Acta paediatrica. 107, 12, p. 2059-2065 7 p.

    Research output: Contribution to journalReviewResearchpeer-review

  12. 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

  13. 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

  14. Published

    Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment

    Tylki-Szymańska, A., De Meirleir, L., Di Rocco, M., Fathalla, W. M., Guffon, N., Lampe, C., Lund, A. M., Parini, R., Wijburg, F. A., Zeman, J. & Scarpa, M., Aug 2018, In : Acta paediatrica. 107, 8, p. 1402-1408 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. Published

    Extreme neonatal hyperbilirubinemia, acute bilirubin encephalopathy, and kernicterus spectrum disorder in children with galactosemia

    Bech, L. F., Donneborg, M. L., Lund, A. M. & Ebbesen, F., Aug 2018, In : Pediatric Research. 84, 2, p. 228-232 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. Published

    Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders

    additional individual contributors of the E-IMD consortium, Posset, R., Garcia-Cazorla, A., Valayannopoulos, V., Leão Teles, E., Dionisi-Vici, C., Brassier, A., Burlina, A. B., Burgard, P., Cortès-Saladelafont, E., Dobbelaere, D., Couce, M. L., Sykut-Cegielska, J., Häberle, J., Lund, A. M., Chakrapani, A., Schiff, M., Walter, J. H., Zeman, J., Vara, R. & Kölker, S., Jul 2018, In : Journal of Inherited Metabolic Disease. 41, 4, p. 743-744 2 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. Published

    Cryopreservation of ovarian tissue may be considered in young girls with galactosemia

    Mamsen, L. S., Kelsey, T. W., Ernst, E., Macklon, K. T., Lund, A. M. & Andersen, C. Y., Jul 2018, In : Journal of Assisted Reproduction and Genetics. 35, 7, p. 1209-1217 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  18. 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

  19. Published

    The impact of consanguinity on the frequency of inborn errors of metabolism

    Afzal, R. M., Lund, A. M. & Skovby, F., Jun 2018, In : Molecular Genetics and Metabolism Reports. 15, p. 6-10 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  20. Published

    Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia

    Steenhof, M., Kibæk, M., Larsen, M. J., Christensen, M., Lund, A. M., Brusgaard, K. & Hertz, J. M., 12 May 2018, In : Neurogenetics. 19, 3, p. 145-149

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. Published

    Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study

    Khaikin, Y., Sidky, S., Abdenur, J., Anastasi, A., Ballhausen, D., Buoni, S., Chan, A., Cheillan, D., Dorison, N., Goldenberg, A., Goldstein, J., Hofstede, F. C., Jacquemont, M-L., Koeberl, D. D., Lion-Francois, L., Lund, A. M., Mention, K., Mundy, H., O'Rourke, D., Pitelet, G., Raspall-Chaure, M., Tassini, M., Billette de Villemeur, T., Williams, M., Salomons, G. S. & Mercimek-Andrews, S., May 2018, In : European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 22, 3, p. 369-379 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  22. Published

    Udredning af krampeanfald i neonatalperioden

    Jensen, K. V., Hansen, B. M., Lund, A. M. & Miranda, M. J., 2 Apr 2018, In : Ugeskrift for Laeger. 180, 14, p. V04170297 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  23. Published
  24. Published
  25. Published
  26. 2017
  27. Published

    Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias

    Heringer, J., Valayannopoulos, V., Lund, A. M., Wijburg, F. A., Freisinger, P., Barić, I., Baumgartner, M. R., Burgard, P., Burlina, A. B., Chapman, K. A., Cortès I Saladelafont, E., Karall, D., Mühlhausen, C., Riches, V., Schiff, M., Sykut-Cegielska, J., Walter, J. H., Zeman, J., Chabrol, B., Kölker, S. & Additional individual contributors of the E-IMD consortium, 12 Dec 2017, In : Journal of Inherited Metabolic Disease.

    Research output: Contribution to journalJournal articleResearchpeer-review

  28. 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

  29. Published
  30. 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

  31. 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

  32. 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

  33. 2016
  34. Published

    Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark

    Bayat, A., Yasmeen, S., Lund, A., Nielsen, J. B. & Møller, L. B., Sep 2016, In : Clinical Genetics. 90, 3, p. 247-51

    Research output: Contribution to journalJournal articleResearchpeer-review

  35. Published

    Debut af arvelig metabolisk encefalopati kan ses efter neonatalperioden

    Sørensen, L. C., Rehman, S. & Lund, A. M., 30 May 2016, In : Ugeskrift for Laeger. 178, 22, p. V12151013

    Research output: Contribution to journalJournal articleResearchpeer-review

  36. Published

    Ehlers-Danlos' Syndrom

    Leganger, J., Søborg, M-L. K., Farholt, S., Lund, A. M., Rosenberg, J. & Burcharth, J., 25 Apr 2016, In : Ugeskrift for Laeger. 178, 17, p. V01160014

    Research output: Contribution to journalJournal articleResearchpeer-review

  37. 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

  38. Published
  39. Published

    Impact of age at onset and newborn screening on outcome in organic acidurias

    Heringer, J., Valayannopoulos, V., Lund, A. M., Wijburg, F. A., Freisinger, P., Barić, I., Baumgartner, M. R., Burgard, P., Burlina, A. B., Chapman, K. A., I Saladelafont, E. C., Karall, D., Mühlhausen, C., Riches, V., Schiff, M., Sykut-Cegielska, J., Walter, J. H., Zeman, J., Chabrol, B., Kölker, S. & additional individual contributors of the E-IMD consortium, 2016, In : Journal of Inherited Metabolic Disease. 39, 3, p. 341-53

    Research output: Contribution to journalJournal articleResearchpeer-review

  40. Published
  41. 2015
  42. 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

  43. Published

    Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

    Kölker, S., Cazorla, A. G., Valayannopoulos, V., Lund, A. M., Burlina, A. B., Sykut-Cegielska, J., Wijburg, F. A., Teles, E. L., Zeman, J., Dionisi-Vici, C., Barić, I., Karall, D., Augoustides-Savvopoulou, P., Aksglaede, L., Arnoux, J-B., Avram, P., Baumgartner, M. R., Blasco-Alonso, J., Chabrol, B., Chakrapani, A., Chapman, K., I Saladelafont, E. C., Couce, M. L., de Meirleir, L., Dobbelaere, D., Dvorakova, V., Furlan, F., Gleich, F., Gradowska, W., Grünewald, S., Jalan, A., Häberle, J., Haege, G., Lachmann, R., Laemmle, A., Langereis, E., de Lonlay, P., Martinelli, D., Matsumoto, S., Mühlhausen, C., de Baulny, H. O., Ortez, C., Peña-Quintana, L., Ramadža, D. P., Rodrigues, E., Scholl-Bürgi, S., Sokal, E., Staufner, C., Summar, M. L., Thompson, N., Vara, R., Pinera, I. V., Walter, J. H., Williams, M. & Burgard, P., Nov 2015, 2 p.

    Research output: Other contributionResearch

  44. Published

    Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

    Kölker, S., Valayannopoulos, V., Burlina, A. B., Sykut-Cegielska, J., Wijburg, F. A., Teles, E. L., Zeman, J., Dionisi-Vici, C., Barić, I., Karall, D., Arnoux, J-B., Avram, P., Baumgartner, M. R., Blasco-Alonso, J., Boy, S. P. N., Rasmussen, M. B., Burgard, P., Chabrol, B., Chakrapani, A., Chapman, K., Cortès I Saladelafont, E., Couce, M. L., de Meirleir, L., Dobbelaere, D., Furlan, F., Gleich, F., González, M. J., Gradowska, W., Grünewald, S., Honzik, T., Hörster, F., Ioannou, H., Jalan, A., Häberle, J., Haege, G., Langereis, E., de Lonlay, P., Martinelli, D., Matsumoto, S., Mühlhausen, C., Murphy, E., de Baulny, H. O., Ortez, C., Pedrón, C. C., Pintos-Morell, G., Pena-Quintana, L., Ramadža, D. P., Rodrigues, E., Scholl-Bürgi, S., Sokal, E., Summar, M. L., Thompson, N., Vara, R., Pinera, I. V., Walter, J. H., Williams, M., Lund, A. M. & Cazorla, A. G., Nov 2015, 2 p.

    Research output: Other contributionResearch

  45. Published

    The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

    Kölker, S., Cazorla, A. G., Valayannopoulos, V., Lund, A. M., Burlina, A. B., Sykut-Cegielska, J., Wijburg, F. A., Teles, E. L., Zeman, J., Dionisi-Vici, C., Barić, I., Karall, D., Augoustides-Savvopoulou, P., Aksglaede, L., Arnoux, J-B., Avram, P., Baumgartner, M. R., Blasco-Alonso, J., Chabrol, B., Chakrapani, A., Chapman, K., I Saladelafont, E. C., Couce, M. L., de Meirleir, L., Dobbelaere, D., Dvorakova, V., Furlan, F., Gleich, F., Gradowska, W., Grünewald, S., Jalan, A., Häberle, J., Haege, G., Lachmann, R., Laemmle, A., Langereis, E., de Lonlay, P., Martinelli, D., Matsumoto, S., Mühlhausen, C., de Baulny, H. O., Ortez, C., Peña-Quintana, L., Ramadža, D. P., Rodrigues, E., Scholl-Bürgi, S., Sokal, E., Staufner, C., Summar, M. L., Thompson, N., Vara, R., Pinera, I. V., Walter, J. H., Williams, M. & Burgard, P., Nov 2015, In : Journal of Inherited Metabolic Disease. 38, 6, p. 1041-57 17 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  46. Published

    The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

    Kölker, S., Valayannopoulos, V., Burlina, A. B., Sykut-Cegielska, J., Wijburg, F. A., Teles, E. L., Zeman, J., Dionisi-Vici, C., Barić, I., Karall, D., Arnoux, J-B., Avram, P., Baumgartner, M. R., Blasco-Alonso, J., Boy, S. P. N., Rasmussen, M. B., Burgard, P., Chabrol, B., Chakrapani, A., Chapman, K., Cortès I Saladelafont, E., Couce, M. L., de Meirleir, L., Dobbelaere, D., Furlan, F., Gleich, F., González, M. J., Gradowska, W., Grünewald, S., Honzik, T., Hörster, F., Ioannou, H., Jalan, A., Häberle, J., Haege, G., Langereis, E., de Lonlay, P., Martinelli, D., Matsumoto, S., Mühlhausen, C., Murphy, E., de Baulny, H. O., Ortez, C., Pedrón, C. C., Pintos-Morell, G., Pena-Quintana, L., Ramadža, D. P., Rodrigues, E., Scholl-Bürgi, S., Sokal, E., Summar, M. L., Thompson, N., Vara, R., Pinera, I. V., Walter, J. H., Williams, M., Lund, A. M. & Garcia Cazorla, A., Nov 2015, In : Journal of Inherited Metabolic Disease. 38, 6, p. 1059-74 16 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  47. Published

    Splenomegali og dårlig trivselsom følge af morbus Gaucher

    Hansen, G. L., Lund, A. M. & Børresen, M. L., 7 Sep 2015, In : Ugeskrift for Laeger. 177, 37, p. V04150358

    Research output: Contribution to journalJournal articleResearchpeer-review

  48. 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

  49. 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

  50. 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

  51. Published

    A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

    Terhal, P. A., Nievelstein, R. J. A. J., Verver, E. J. J., Topsakal, V., van Dommelen, P., Hoornaert, K., Le Merrer, M., Zankl, A., Simon, M. E. H., Smithson, S. F., Marcelis, C., Kerr, B., Clayton-Smith, J., Kinning, E., Mansour, S., Elmslie, F., Goodwin, L., van der Hout, A. H., Veenstra-Knol, H. E., Herkert, J. C., Lund, A. M., Hennekam, R. C. M., Mégarbané, A., Lees, M. M., Wilson, L. C., Male, A., Hurst, J., Alanay, Y., Annerén, G., Betz, R. C., Bongers, E. M. H. F., Cormier-Daire, V., Dieux, A., David, A., Elting, M. W., van den Ende, J., Green, A., van Hagen, J. M., Hertel, N. T., Holder-Espinasse, M., den Hollander, N., Homfray, T., Hove, H. D., Price, S., Raas-Rothschild, A., Rohrbach, M., Schroeter, B., Suri, M., Thompson, E. M., Tobias, E. S., Toutain, A., Vreeburg, M., Wakeling, E., Knoers, N. V., Coucke, P. & Mortier, G. R., Mar 2015, In : American Journal of Medical Genetics. Part A. 167, 3, p. 461-75 15 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  52. Published

    Diagnostik og behandling af fenylketonuri

    Bayat, A., Møller, L. B. & Lund, A. M., 16 Feb 2015, In : Ugeskrift for læger [online]. 177, 8, p. V07140383

    Research output: Contribution to journalJournal articleResearchpeer-review

  53. 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

  54. 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

  55. 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

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