Elsebet Østergaard
Clinical Associate Professor
- 2021
- 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, , 2021, In: Frontiers in Neurology. 12, 668640.Research output: Contribution to journal › Journal article › Research › peer-review
- 2020
- 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, , 2020, In: Nature Communications. 11, 1, 5927.Research output: Contribution to journal › Journal article › Research › peer-review
- 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. 255-259Research output: Contribution to journal › Journal article › Research › peer-review
- 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
- Published
The impact of gender, puberty, and pregnancy in patients with POLG disease
Hikmat, O., Naess, K., Engvall, M., Klingenberg, C., Rasmussen, M., Tallaksen, C. M. E., Samsonsen, C., Brodtkorb, E., Østergaard, Elsebet, de Coo, R., Pias-Peleteiro, L., Isohanni, P., Uusimaa, J., Darin, N., Rahman, S. & Bindoff, L. A., 2020, In: Annals of Clinical and Translational Neurology. 7, 10, p. 2019-2025 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2019
- Published
Genotype and phenotype classification of 29 patients affected by Krabbe disease
Madsen, A. M. H., Wibrand, F., Lund, A. M., Ek, J., Dunø, M. & Østergaard, Elsebet, Mar 2019, In: JIMD Reports. 46, 1, p. 35-45 11 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?
Altaraihi, M., Wadt, Karin Anna Wallentin, Ek, J., Gerdes, Anne-Marie Axø & Østergaard, Elsebet, 2019, In: Human Genome Variation. 6, 1, 10.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Genomisk medicin til præimplantations-, præ- og postnatal diagnostik
Gerdes, Anne-Marie Axø, Risom, L., Kjærgaard, S. & Østergaard, Elsebet, 2019, In: Ugeskrift for Laeger. 181, 7A, 5 p., V11180756.Research output: Contribution to journal › Journal article › Research › peer-review
- 2018
- Published
A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course
Grønborg, S., Risom, L., Ek, J., Larsen, Karen Bonde, Scheie, David, Petkov, Y., Larsen, V. A., Dunø, M., Joensen, F. & Østergaard, Elsebet, 2018, In: European Journal of Human Genetics. 26, 10, p. 1512-1520 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder
Barington, M., Risom, L., Ek, J., Uldall, P. & Østergaard, Elsebet, 2018, In: European Journal of Human Genetics. 26, 9, p. 1388-1391 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
ID: 33970574
Most downloads
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203
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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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133
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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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70
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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