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The Capital Region of Denmark - a part of Copenhagen University Hospital

Molecular Genetics and Metabolism Reports, 2214-4269

Journal

  1. 2018
  2. 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

  3. 2017
  4. Published
  5. 2015
  6. 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

  7. Published

    When should social service referral be considered in phenylketonuria?

    van Rijn, M., Ahring, K., Bélanger-Quintana, A., Dokoupil, K., Gokmen-Ozel, H., Lammardo, A. M., Robert, M., Rocha, J. C. & MacDonald, A., Mar 2015, In : Molecular Genetics and Metabolism Reports. 2, p. 85-88

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. 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

  9. 2014
  10. Published

    Overweight and obesity in PKU: The results from 8 centres in Europe and Turkey

    Gokmen Ozel, H., Ahring, K., Bélanger-Quintana, A., Dokoupil, K., Lammardo, A. M., Robert, M., Rocha, J. C., Almeida, M. F., van Rijn, M. & MacDonald, A., 2014, In : Molecular Genetics and Metabolism Reports. p. 483-486

    Research output: Contribution to journalJournal articleCommunication

ID: 45115428