Elsebet Østergaard
Clinical Associate Professor
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Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients
Carrozzo, R., Verrigni, D., Rasmussen, M., de Coo, R., Amartino, H., Bianchi, M., Buhas, D., Mesli, S., Naess, K., Born, A. P., Woldseth, B., Prontera, P., Batbayli, M., Ravn, K., Joensen, F., Cordelli, D. M., Santorelli, F. M., Tulinius, M., Darin, N., Duno, M. & 14 others, , Mar 2016, In: Journal of Inherited Metabolic Disease. 39, 2, p. 243-52 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
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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. 266-282Research output: Contribution to journal › Journal article › Research › peer-review
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The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease
Ng, Y. S., Alston, C. L., Diodato, D., Morris, A. D., Ulrick, N., Kmoch, S., Houštěk, J., Martinelli, D., Haghighi, A., Atiq, M., Gamero, M. A., Garcia-Martinez, E., Kratochvílová, H., Santra, S., Brown, R. M., Brown, G. K., Ragge, N., Monavari, A., Pysden, K., Ravn, K. & 14 others, , Nov 2016, In: Journal of Medical Genetics. 53, 11, p. 768-775Research output: Contribution to journal › Journal article › Research › peer-review
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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
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The postgraduate medical educational climate assessed by the Danish Residency Educational Climate Test (DK-RECT): a validation and cross-sectional observational study
Jacobsen, Rikke Vita Borre, Boor, K., Christensen, Karl Bang, Ung, V. H., Carlsen, Jørn, Kirk, Ole, Dziegiel, Morten Hanefeld, Østergaard, Elsebet, Rochat, Per Bjørnstad, Albrecht-Beste, Elisabeth, Droogh, M., Lapperre, T. S., Scheele, F. & Sorensen, Jette Led , 2023, In: BMC Medical Education. 23, 1, 13 p., 943.Research output: Contribution to journal › Journal article › Research › peer-review
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The susceptibility of dental plaque bacteria to the herbs included in Longo Vital®
Larsen, Tove, Fiehn, Nils-Erik & Østergaard, Elsebet, 1 May 1996, In: Microbial Ecology in Health and Disease. 9, 3, p. 91-95 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Two transgenic mouse models for β-subunit components of succinate-CoA ligase yielding pleiotropic metabolic alterations
Kacso, G., Ravasz, D., Doczi, J., Németh, B., Madgar, O., Saada, A., Ilin, P., Miller, C., Ostergaard, E., Iordanov, I., Adams, D., Vargedo, Z., Araki, M., Araki, K., Nakahara, M., Ito, H., Gál, A., Molnár, M. J., Nagy, Z., Patocs, A. & 2 others, , 15 Oct 2016, In: Biochemical Journal. 473, 20, p. 3463-3485 23 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt
Shepherdson, J. L., Hutchison, K., Don, D. W., McGillivray, G., Choi, T. I., Allan, C. A., Amor, D. J., Banka, S., Basel, D. G., Buch, L. D., Carere, D. A., Carroll, R., Clayton-Smith, J., Crawford, A., Dunø, M., Faivre, L., Gilfillan, C. P., Gold, N. B., Gripp, K. W., Hobson, E. & 37 others, , 2024, In: American Journal of Human Genetics. 111, 3, p. 487-508 22 p.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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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