Elsebet Østergaard

Elsebet Østergaard

Clinical Associate Professor

Member of:

  • Clinical Genetics


Publication year:
All
21 - 30 out of 58Page size: 10
  1. 2022
  2. Published

    Mitokondriesygdomme

    Duno, M. & Østergaard, Elsebet, 2022, Medicinsk genetik. FADL's Forlag, p. 385-392

    Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Education

  3. Published

    Renal Phenotype in Mitochondrial Diseases: A Multicenter Study

    Parasyri, M., Brandstroem, P., Uusimaa, J., Østergaard, Elsebet, Hikmat, O., Isohanni, P., Naess, K., de Coo, I. F. M., Nascimento Osorio, A., Nuutinen, M., Lindberg, C., Bindoff, L. A., Tulinius, M., Darin, N. & Sofou, K., 2022, In: Kidney diseases. 8, 2, 12 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  4. Published

    The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

    Kumble, S. & Undiagnosed Diseases Network, U. D. N., 2022, In: Human Mutation. 43, 2, p. 266-282

    Research output: Contribution to journal › Journal article › Research › peer-review

  5. 2021
  6. Published

    A novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency

    Lundquist, A. A., Farholt, S., Børresen, M. L., Dunø, M., Wibrand, F., Witting, N. & Østergaard, Elsebet, 2021, In: European Journal of Medical Genetics. 64, 10, 7 p., 104306.

    Research output: Contribution to journal › Journal article › Research › peer-review

  7. Published

    A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetuses

    Alstrup, M., Vogel, I., Sandager, P., Blechingberg, J., Becher, N. & Østergaard, Elsebet, 2021, In: JIMD Reports. 59, 1, p. 20-25

    Research output: Contribution to journal › Journal article › Research › peer-review

  8. Published

    Excellent response to asfotase alfa treatment in an adolescent patient with hypophosphatasia

    Strandbech, O. S., Lund, Allan Meldgaard & Østergaard, Elsebet, 2021, In: JIMD Reports. 59, 1, p. 10-15

    Research output: Contribution to journal › Journal article › Research › peer-review

  9. Published

    NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum

    den Hollander, B., Rasing, A., Post, M. A., Klein, W. M., Oud, M. M., Brands, M. M., de Boer, L., Engelke, U. F. H., van Essen, P., Fuchs, S. A., Haaxma, C. A., Jensson, B. O., Kluijtmans, L. A. J., Lengyel, A., Lichtenbelt, K. D., Østergaard, E., Peters, G., Salvarinova, R., Simon, M. E. H., Stefansson, K. & 6 others, Thorarensen, Ó., Ulmen, U., Coene, K. L. M., Willemsen, M. A., Lefeber, D. J. & Karnebeek, C. D. M. V., 2021, In: Frontiers in Neurology. 12, 668640.

    Research output: Contribution to journal › Journal article › Research › peer-review

  10. 2020
  11. Published

    SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease

    Gut, P., Matilainen, S., Meyer, J. G., Pällijeff, P., Richard, J., Carroll, C. J., Euro, L., Jackson, C. B., Isohanni, P., Minassian, B. A., Alkhater, R. A., Østergaard, E., Civiletto, G., Parisi, A., Thevenet, J., Rardin, M. J., He, W., Nishida, Y., Newman, J. C., Liu, X. & 6 others, Christen, S., Moco, S., Locasale, J. W., Schilling, B., Suomalainen, A. & Verdin, E., 2020, In: Nature Communications. 11, 1, 5927.

    Research output: Contribution to journal › Journal article › Research › peer-review

  12. Published

    Mitochondrial dysfunction induced by variation in the non-coding genome – A proposed workflow to improve diagnostics

    du Mee, D. J. M., Bak, M., Østergaard, Elsebet & Rasmussen, Lene Juel, 2020, In: Mitochondrion. 53, p. 255-259

    Research output: Contribution to journal › Journal article › Research › peer-review

  13. Published

    Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases

    Hikmat, O., Naess, K., Engvall, M., Klingenberg, C., Rasmussen, M., Tallaksen, C. M. E., Brodtkorb, E., Østergaard, Elsebet, de Coo, I. F. M., Pias-Peleteiro, L., Isohanni, P., Uusimaa, J., Darin, N., Rahman, S. & Bindoff, L. A., 2020, In: Journal of Inherited Metabolic Disease. 43, 4, p. 726-736 11 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

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