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The Capital Region of Denmark - a part of Copenhagen University Hospital
  1. 2018
  2. Published
  3. E-pub ahead of print
  4. Published
  5. E-pub ahead of print
  6. 2017
  7. Published
  8. Published

    Incidence, prevalence, diagnostic delay, morbidity, mortality and socioeconomic status in males with 46,XX disorders of sex development: a nationwide study

    Berglund, A., Johannsen, T. H., Stochholm, K., Aksglaede, L., Fedder, J., Viuff, M. H., Main, K. M. & Gravholt, C. H. 1 Aug 2017 In : Human reproduction (Oxford, England). 32, 8, p. 1751-1760 10 p.

    Research output: Contribution to journalJournal article

  9. Published
  10. Published
  11. Published
  12. 2016
  13. Published
  14. 2015
  15. 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 contribution

  16. 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 article

  17. Published
  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 article

  19. 2014
  20. Published
  21. Published

    Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability

    Tatton-Brown, K., Seal, S., Ruark, E., Harmer, J., Ramsay, E., Del Vecchio Duarte, S., Zachariou, A., Hanks, S., O'Brien, E., Aksglaede, L., Baralle, D., Dabir, T., Gener, B., Goudie, D., Homfray, T., Kumar, A., Pilz, D. T., Selicorni, A., Temple, I. K., Van Maldergem, L., Yachelevich, N., van Montfort, R., Rahman, N. & Childhood Overgrowth Consortium Apr 2014 In : Nature Genetics. 46, 4, p. 385-8 4 p.

    Research output: Contribution to journalJournal article

  22. Published
  23. Published
  24. Published
  25. Published
  26. Published
  27. 2013
  28. Published
  29. Published
  30. Published

    Adverse metabolic risk profiles in Greenlandic Inuit children compared to Danish children

    Munch-Andersen, T., Sorensen, K., Andersen, L. B., Aachmann-Andersen, N. J., Aksglaede, L., Juul, A. & Helge, J. W. Jun 2013 In : Obesity (Silver Spring, Md.). 21, 6, p. 1226-31 6 p.

    Research output: Contribution to journalJournal article

  31. Published
  32. Published
  33. Published
  34. Published
  35. Published

    Ethnic differences in leptin and adiponectin levels between Greenlandic Inuit and Danish children

    Munch-Andersen, T., Sorensen, K., Aachmann-Andersen, N. J., Aksglaede, L., Juul, A. & Helge, J. W. 2013 In : International Journal of Circumpolar Health. p. 72

    Research output: Contribution to journalJournal article

  36. Published
  37. Published
  38. 2012
  39. Published

    Detection of increased gene copy number in DNA from dried blood spot samples allows efficient screening for Klinefelter syndrome

    Aksglaede, L., Garn, I. D., Hollegaard, M. V., Hougaard, D. M., Rajpert-De Meyts, E. & Juul, A. 2012 In : Acta Paediatrica. 101, 12, p. e561-3

    Research output: Contribution to journalJournal article

  40. Published
  41. Published

    Endocrine evaluation of reproductive function in girls during infancy, childhood and adolescence

    Juul, A., Hagen, C. P., Aksglaede, L., Sørensen, K., Mouritsen, A., Frederiksen, H., Main, K. M., Mogensen, S. S. & Pedersen, A. T. 2012 Pediatric and Adolescent Gynecology. Vol. 22, p. 24-39 16 p. (Endocrine Development).

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

  42. Published
  43. Published
  44. Published
  45. Published
  46. Published
  47. Published
  48. Published
  49. 2011
  50. Published
  51. Published

    The pituitary-Leydig cell axis before and after orchiectomy in patients with stage I testicular cancer

    Bandak, M., Aksglaede, L., Juul, A., Rørth, M. & Daugaard, G. 1 Nov 2011 In : European Journal of Cancer. 47, 17, p. 2585-91 7 p.

    Research output: Contribution to journalJournal article

  52. Published
  53. Published
  54. Published
  55. Published

    Klinefelter syndrome: the forgotten syndrome: basic and clinical questions posed to an international group of scientists

    Juul, A., Aksglaede, L., Bay, K., Grigor, K. M. & Skakkebæk, N. E. 1 Jun 2011 In : Acta Paediatrica. 100, 6, p. 791-2 2 p.

    Research output: Contribution to journalConference article

  56. Published
  57. Published

    LIN28B, LIN28A, KISS1, and KISS1R in idiopathic central precocious puberty

    Tommiska, J., Sørensen, K., Aksglaede, L., Koivu, R., Puhakka, L., Juul, A. & Raivio, T. 1 Jan 2011 In : B M C Research Notes. 4, p. 363

    Research output: Contribution to journalJournal article

  58. Published
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ID: 48865015