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The Capital Region of Denmark - a part of Copenhagen University Hospital
  1. 2014
  2. 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

  3. Published

    Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects

    Valencia, M., Caparrós-Martin, J. A., Sirerol-Piquer, M. S., García-Verdugo, J. M., Martínez-Glez, V., Lapunzina, P., Temtamy, S., Aglan, M., Lund, A. M., Nikkels, P. G. J., Ruiz-Perez, V. L. & Ostergaard, E., May 2014, In : American Journal of Medical Genetics. Part A. 164A, 5, p. 1143-50 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Published

    Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands

    Rasmussen, J., Wendelboe Nielsen, O., Janzen, N., Duno, M., Køber, L., Steuerwald, U. & Lund, A. M., Mar 2014, In : Journal of Inherited Metabolic Disease. 37, 2, p. 215-222 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Published

    Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening

    Rasmussen, J., Køber, L., Lund, A. M. & Wendelboe Nielsen, O., Mar 2014, In : Journal of Inherited Metabolic Disease. 37, 2, p. 223-230 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. Published

    Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations

    Vandersteen, A. M., Lund, A. M., Ferguson, D. J. P., Sawle, P., Pollitt, R. C., Holder, S. E., Wakeling, E., Moat, N. & Pope, F. M., Feb 2014, In : American Journal of Medical Genetics. Part A. 164, 2, p. 386-91 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. Published

    Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

    Baker, P. R., Friederich, M. W., Swanson, M. A., Shaikh, T., Bhattacharya, K., Scharer, G. H., Aicher, J., Creadon-Swindell, G., Geiger, E., Maclean, K. N., Lee, W-T., Deshpande, C., Freckmann, M-L., Shih, L-Y., Wasserstein, M., Rasmussen, M. B., Lund, A. M., Procopis, P., Cameron, J. M., Robinson, B. H., Brown, G. K., Brown, R. M., Compton, A. G., Dieckmann, C. L., Collard, R., Coughlin, C. R., Spector, E., Wempe, M. F. & Van Hove, J. L. K., Feb 2014, In : Brain : a journal of neurology. 137, Pt 2, p. 366-79 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. Published

    Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene

    Mercimek-Mahmutoglu, S., Ndika, J., Kanhai, W., de Villemeur, T. B., Cheillan, D., Christensen, E., Dorison, N., Hannig, V., Hendriks, Y., Hofstede, F. C., Lion-Francois, L., Lund, A. M., Mundy, H., Pitelet, G., Raspall-Chaure, M., Scott-Schwoerer, J. A., Szakszon, K., Valayannopoulos, V., Williams, M. & Salomons, G. S., 10 Jan 2014, In : Human Mutation. 35, 4, p. 462-69

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. 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

  10. Published

    X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

    Møller, R. S., Jensen, L. R., Maas, S. M., Filmus, J., Capurro, M., Hansen, C., Marcelis, C. L. M., Ravn, K., Andrieux, J., Mathieu, M., Kirchhoff, E. M., Rødningen, O. K., de Leeuw, N., Yntema, H. G., Froyen, G., Vandewalle, J., Ballon, K., Klopocki, E., Joss, S., Tolmie, J., Knegt, A. C., Lund, A. M., Hjalgrim, H., Kuss, A. W., Tommerup, N. M., Ullmann, R., de Brouwer, A. P. M., Strømme, P., Kjærgaard, S., Tümer, Z. & Kleefstra, T., 2014, In : Human Genetics. 133, 5, p. 625-638

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. 2013
  12. 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

  13. Published

    Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing

    Nota, B., Hamilton, E. M., Sie, D., Ozturk, S., van Dooren, S. J. M., Ojeda, M. R. F., Jakobs, C., Christensen, E., Kirk, E. P., Sykut-Cegielska, J., Lund, A. M., van der Knaap, M. S. & Salomons, G. S., Nov 2013, In : Journal of Medical Genetics. 50, 11, p. 754-9 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. Published
  15. Published

    Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients

    Rauch, F., Moffatt, P., Cheung, M., Roughley, P., Lalic, L., Lund, A. M., Ramirez, N., Fahiminiya, S., Majewski, J. & Glorieux, F. H., Jan 2013, In : Journal of Medical Genetics. 50, 1, p. 21-4 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. Published

    Primary carnitine deficiency and pivalic acid exposure causing encephalopathy and fatal cardiac events

    Rasmussen, J., Wendelboe Nielsen, O., Lund, A. M., Køber, L. & Djurhuus, H., Jan 2013, In : Journal of Inherited Metabolic Disease. 36, 1, p. 35-41 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. 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

  18. 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

  19. 2012
  20. Published

    Adherence issues in inherited metabolic disorders treated by low natural protein diets

    MaCdonald, A., van Rijn, M., Feillet, F., Lund, A. M., Bernstein, L., Bosch, A. M., Gizewska, M. & van Spronsen, F. J., 2012, In : Annals of nutrition & metabolism. 61, 4, p. 289-95 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. 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

  22. Published

    Arvelige stofskiftesygdomme

    Lund, A. & Skovby, F., 2012, Medicinsk genetik. Nørby, S. & Jensen, P. K. A. (eds.). 2 ed. København: FADL's Forlag, p. 201-218

    Research output: Chapter in Book/Report/Conference proceedingBook chapterEducation

  23. Published

    Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland - Experience and development of a routine program for expanded newborn screening

    Lund, A. M., Hougaard, D. M., Simonsen, H., Andresen, B. S., Christensen, M., Dunø, M., Skogstrand, K., Olsen, R. K. J., Jensen, U. G., Cohen, A., Larsen, N. B., Saugmann-Jensen, P., Gregersen, N., Brandt, N. J., Christensen, E., Skovby, F. & Nørgaard-Pedersen, B., 2012, In : Molecular Genetics and Metabolism. 107, 3, p. 281-93 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  24. Published

    CTD og Færinger

    Rasmussen, J. & Lund, A., 2012, In : Maanedsskrift for Praktisk Laegegerning. 4, April

    Research output: Contribution to journalJournal articleCommunication

  25. Published

    Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III

    de Ruijter, J., de Ru, M. H., Wagemans, T., Ijlst, L., Lund, A. M., Orchard, P. J., Schaefer, G. B., Wijburg, F. A. & van Vlies, N., 2012, In : Molecular Genetics and Metabolism. 107, 4, p. 705-10 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  26. Published

    Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele

    Bross, P. G., Frederiksen, J. B., Bie, A. S., Hansen, J., Palmfeldt, J., Nielsen, M. N., Duno, M., Lund, A. M. & Christensen, E., 2012, In : Journal of Inherited Metabolic Disease. 35, 5, p. 787-96 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  27. Published

    Karnitintransporterdefekt er en arvelig sygdom med høj hyppighed på Færøerne

    Poulsen, S. D., Lund, A. M., Christensen, E. & Skovby, F., 2012, In : Ugeskrift for Laeger. 174, 18, p. 1217-9 3 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  28. Published

    MCAD deficiency in Denmark

    Andresen, B. S., Lund, A. M., Hougaard, D. M., Christensen, E., Gahrn, B., Christensen, M., Bross, P. G., Vested, A., Simonsen, H., Skogstrand, K., Olpin, S., Brandt, N. J., Skovby, F., Nørgaard-Pedersen, B. & Gregersen, N., 2012, In : Molecular Genetics and Metabolism. 106, 2, p. 175-88 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  29. Published

    Mutation-based growth charts for SEDC and other COL2A1 related dysplasias

    Terhal, P. A., van Dommelen, P., Le Merrer, M., Zankl, A., Simon, M. E. H., Smithson, S. F., Marcelis, C., Kerr, B., Kinning, E., Mansour, S., Hennekam, R. C. M., van der Hout, A. H., Cormier-Daire, V., Lund, A. M., Goodwin, L., Mégarbané, A., Lees, M., Betz, R. C., Tobias, E. S., Coucke, P. & Mortier, G. R., 2012, In : American Journal of Medical Genetics. Part C: Seminars in Medical Genetics. 160C, 3, p. 205-16 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  30. 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

  31. 2011
  32. 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

  33. Published

    Bedre prognose af cystinose ved behandling med cysteamin og nyretransplantation

    Oczachowska-Kulik, A. E., Lund, A., Skovby, F. & Pedersen, E. B., 2011, In : Ugeskrift for Laeger. 173, 33, p. 1958-62 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  34. Published

    Forstørret nakkefold kan ses ved osteogenesis imperfecta

    Schönewolf-Greulich, B., Skibsted, L., Maroun, L. L., Lund, A. M. & Brøndum-Nielsen, K., 2011, In : Ugeskrift for Laeger. 173, 13, p. 973-4 2 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  35. Published

    Isovalerianeacidæmi--en sjælden og alvorlig defekt i nedbrydningen af leucin

    Lund, A-B. K. & Lund, A., 2011, In : Ugeskrift for Laeger. 173, 15, p. 1121-3 3 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  36. Published

    Kliniske aspekter af Marfans syndrom

    Belsing, T. Z., Lund, A. M., Søndergaard, L., Friis-Hansen, L. & Abildstrøm, S. Z., 2011, In : Ugeskrift for Laeger. 173, 5, p. 337-42 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  37. Published

    Molekylærbiologiske aspekter af Marfansyndromer

    Belsing, T. Z., Lund, A. M., Abildstrøm, S. Z., Søndergaard, L. & Friis-Hansen, L., 2011, In : Ugeskrift for Laeger. 173, 5, p. 333-7 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  38. Published

    Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

    Scarpa, M., Almássy, Z., Beck, M., Bodamer, O., Bruce, I. A., De Meirleir, L., Guffon, N., Guillén-Navarro, E., Hensman, P., Jones, S., Kamin, W., Kampmann, C., Lampe, C., Lavery, C. A., Teles, E. L., Link, B., Lund, A. M., Malm, G., Pitz, S., Rothera, M., Stewart, C., Tylki-Szymańska, A., van der Ploeg, A., Walker, R., Zeman, J. & Wraith, J. E., 2011, In : Orphanet Journal of Rare Diseases. 6, p. 72

    Research output: Contribution to journalJournal articleResearchpeer-review

  39. 2010
  40. Published

    Brain N-acetylaspartate levels correlate with motor function in metachromatic leukodystrophy

    i Dali, C., Hanson, L. G., Barton, N. W., Fogh, J., Nair, N. & Lund, A. M., 23 Nov 2010, In : Neurology. 75, 21, p. 1896-903 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  41. Published

    Fiskelugt--det kunne vaere trimethylaminuri

    Haugaard, L. K., Lund, A. M., Patursson, P. & Christensen, E., 22 Nov 2010, In : Ugeskrift for Laeger. 172, 47, p. 3268-9 2 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  42. Published

    Clinical and biochemical monitoring of patients with fatty acid oxidation disorders

    Lund, A. M., Skovby, F., Vestergaard, H., Christensen, M. & Christensen, E., 1 Oct 2010, In : Journal of Inherited Metabolic Disease. 33, 5, p. 495-500 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  43. Published

    An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study

    Steenweg, M. E., Jakobs, C., Errami, A., van Dooren, S. J. M., Adeva Bartolomé, M. T., Aerssens, P., Augoustides-Savvapoulou, P., Baric, I., Baumann, M., Bonafé, L., Chabrol, B., Clarke, J. T. R., Clayton, P., Coker, M., Cooper, S., Falik-Zaccai, T., Gorman, M., Hahn, A., Hasanoglu, A., King, M. D., de Klerk, H. B. C., Korman, S. H., Lee, C., Meldgaard Lund, A., Mejaski-Bosnjak, V., Pascual-Castroviejo, I., Raadhyaksha, A., Rootwelt, T., Roubertie, A., Ruiz-Falco, M. L., Scalais, E., Schimmel, U., Seijo-Martinez, M., Suri, M., Sykut-Cegielska, J., Trefz, F. K., Uziel, G., Valayannopoulos, V., Vianey-Saban, C., Vlaho, S., Vodopiutz, J., Wajner, M., Walter, J., Walter-Derbort, C., Yapici, Z., Zafeiriou, D. I., Spreeuwenberg, M. D., Celli, J., den Dunnen, J. T., van der Knaap, M. S. & Salomons, G. S., 1 Apr 2010, In : Human Mutation. 31, 4, p. 380-90 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  44. Published

    OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels

    Huber, C., Fradin, M., Edouard, T., Le Merrer, M., Alanay, Y., Da Silva, D. B., David, A., Hamamy, H., van Hest, L., Lund, A. M., Michaud, J., Oley, C., Patel, C., Rajab, A., Skidmore, D. L., Stewart, H., Tauber, M., Munnich, A. & Cormier-Daire, V., 1 Jan 2010, In : Human Mutation. 31, 1, p. 20-6 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  45. 2007
  46. Published
  47. 1998
  48. Published

    Collagen-derived markers of bone metabolism in osteogenesis imperfecta

    Lund, A. M., Hansen, M., Kollerup, G. B., Juul, A., Teisner, B. & Skovby, F., 1998, In : Acta paediatrica. 87, 11, p. 1131-7 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

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