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

    Danish expanded newborn screening is a successful preventive public health programme

    Lund, A., Wibrand, F., Skogstrand, K., Cohen, A., Christensen, M., Jäpelt, R. B., Dunø, M., Skovby, F., Nørgaard-Pedersen, B., Gregersen, N., Andresen, B. S., Olsen, R. K. J. & Hougaard, D., Jan 2020, In : Danish Medical Journal. 67, 1

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. E-pub ahead of print

    Cystic fibrosis newborn screening in Denmark: Experience from the first 2 years

    Skov, M., Baekvad-Hansen, M., Hougaard, D. M., Skogstrand, K., Lund, A. M., Pressler, T., Olesen, H. V. & Duno, M., 2020, In : Pediatric Pulmonology.

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. E-pub ahead of print

    Increased risk of sudden death in untreated Primary Carnitine Deficiency

    Rasmussen, J., Dunø, M., Lund, A. M., Steuerwald, U., Hansen, S-H., Joensen, H. D., Køber, L. & Nielsen, O. W., 2020, In : Journal of Inherited Metabolic Disease.

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. 2019
  6. 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

  7. Published
  8. Published
  9. Published

    Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

    EHOD consortium, 12 Mar 2019, In : Journal of Inherited Metabolic Disease.

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. 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

  11. Published

    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), 11 Feb 2019, In : Journal of Inherited Metabolic Disease. 42, 4, p. 128-139 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. Published

    A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family

    Eiberg, H., Mikkelsen, A. F., Bak, M., Tommerup, N., Lund, A. M., Wenzel, A., Sabarinathan, R., Gorodkin, J., Bang-Berthelsen, C. H. & Hansen, L., 2019, In : Molecular Vision. 25, p. 1-11 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. Published

    Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment

    Molema, F., Gleich, F., Burgard, P., van der Ploeg, A. T., Summar, M. L., Chapman, K. A., Lund, A. M., Rizopoulos, D., Kölker, S., Williams, M. & Additional individual contributors from E-IMD, 2019, In : Molecular Genetics and Metabolism. 126, 4, p. 397-405 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. Published

    Early prediction of phenotypic severity in Citrullinemia Type 1

    Zielonka, M., Kölker, S., Gleich, F., Stützenberger, N., Nagamani, S. C. S., Gropman, A. L., Hoffmann, G. F., Garbade, S. F., Posset, R., Urea Cycle Disorders Consortium (UCDC) and the European Registry and Network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group & Lund, A. M., 2019, In : Annals of Clinical and Translational Neurology. 6, 9, p. 1858-1871 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. Published

    Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry

    Molema, F., Gleich, F., Burgard, P., van der Ploeg, A. T., Summar, M. L., Chapman, K. A., Barić, I., Lund, A. M., Kölker, S., Williams, M. & Additional individual contributors from E-IMD, 2019, In : Journal of Inherited Metabolic Disease. 42, 6, p. 1162-1175 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. Published

    Functional disruption of pyrimidine nucleoside transporter CNT1 results in a novel inborn error of metabolism with high excretion of uridine and cytidine

    Wevers, R. A., Christensen, M., Engelke, U. F. H., Geuer, S., Coene, K. L. M., Kwast, J. T., Lund, A. M. & Vissers, L. E. L. M., 2019, In : Journal of Inherited Metabolic Disease. 42, 3, p. 494-500 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. Published

    Including classical galactosaemia in the expanded newborn screening panel using tandem mass spectrometry for galactose-1-phosphate

    Cohen, A. S., Baurek, M., Lund, A. M., Dunø, M. & Hougaard, D. M., 2019, In : International Journal of Neonatal Screening. 5, 2, 19.

    Research output: Contribution to journalJournal articleResearchpeer-review

  18. Published

    Questions about a vegan diet should be included in differential diagnostics of neurologically abnormal infants with failure to thrive

    Lund, A. M., 2019, In : Acta paediatrica. 108, 8, p. 1377-1379 3 p.

    Research output: Contribution to journalEditorialResearchpeer-review

  19. Published

    Real-World Outcomes with Lomitapide Use in Paediatric Patients with Homozygous Familial Hypercholesterolaemia

    Ben-Omran, T., Masana, L., Kolovou, G., Ariceta, G., Nóvoa, F. J., Lund, A. M., Bogsrud, M. P., Araujo, M., Hussein, O., Ibarretxe, D., Sanchez-Hernández, R. M. & Santos, R. D., 2019, In : Advances in Therapy. 36, 7, p. 1786-1811 26 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  20. Published

    Recognition of alpha-mannosidosis in paediatric and adult patients: Presentation of a diagnostic algorithm from an international working group

    Guffon, N., Tylki-Szymanska, A., Borgwardt, L., Lund, A. M., Gil-Campos, M., Parini, R. & Hennermann, J. B., 2019, In : Molecular Genetics and Metabolism. 126, 4, p. 470-474 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. Published

    Research activity and capability in the European reference network MetabERN

    Heard, J-M., Bellettato, C., van Lingen, C., Scarpa, M., MetabERN collaboration group & Lund, A. M., 2019, In : Orphanet Journal of Rare Diseases. 14, 1, p. 119

    Research output: Contribution to journalJournal articleResearchpeer-review

  22. Published

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

    Posset, R., Garbade, S. F., Boy, N., Burlina, A. B., Dionisi-Vici, C., Dobbelaere, D., Garcia-Cazorla, A., de Lonlay, P., Teles, E. L., Vara, R., Ah Mew, N., Batshaw, M. L., Baumgartner, M. R., McCandless, S., Seminara, J., Summar, M., Hoffmann, G. F., Kölker, S., Burgard, P., Lund, A. M. & Additional individual contributors of the UCDC and the E-IMD consortium, 2019, In : Journal of Inherited Metabolic Disease. 42, 1, p. 96-106 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  23. 2018
  24. 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

  25. 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

  26. 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

  27. 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

  28. 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

  29. 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

  30. 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

  31. Published

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

    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. & additional individual contributors of the E-IMD consortium, Jul 2018, In : Journal of Inherited Metabolic Disease. 41, 4, p. 743-744 2 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  32. 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

  33. 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

  34. 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

  35. 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

  36. 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

  37. 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

  38. Published
  39. Published
  40. Published
  41. 2017
  42. 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

  43. 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

  44. Published
  45. 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

  46. 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

  47. 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

  48. 2016
  49. 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

  50. 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

  51. 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

  52. 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

  53. Published
  54. 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

  55. Published
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ID: 30784526