Elsebet Østergaard
Clinical Associate Professor
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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, , 2021, In: Frontiers in Neurology. 12, 668640.Research output: Contribution to journal › Journal article › Research › peer-review
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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. 10-15Research output: Contribution to journal › Journal article › Research › peer-review
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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. 20-25Research output: Contribution to journal › Journal article › Research › peer-review
- 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
ID: 33970574
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Two transgenic mouse models for β-subunit components of succinate-CoA ligase yielding pleiotropic metabolic alterations
Research output: Contribution to journal › Journal article › Research › peer-review
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136
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A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients
Research output: Contribution to journal › Journal article › Research › peer-review
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71
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Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Research output: Contribution to journal › Journal article › Research › peer-review
Published