Elsebet Østergaard
Clinical Associate Professor
1 - 2 out of 2Page size: 50
- 2015
- Published
A mitochondrial tRNA(Met) mutation causing developmental delay, exercise intolerance and limb girdle phenotype with onset in early childhood
Born, A. P., Duno, M., Rafiq, J., Risom, L., Wibrand, F., Østergaard, Elsebet & Vissing, John, Jan 2015, In: European Journal of Paediatric Neurology. 19, 1, p. 69-71 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature
Østergaard, Elsebet, Weraarpachai, W., Ravn, K. J. T., Born, A. P., Jønson, L., Dunø, M., Wibrand, F., Shoubridge, E. A. & Vissing, John, Mar 2015, In: Journal of Medical Genetics. 52, 3, p. 203-7 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
ID: 33970574
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205
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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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134
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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