Elsebet Østergaard

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Most downloads

1. 203 downloads

   Published

   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

2. 133 downloads

   Published

   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

3. 70 downloads

   Published

   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

4. 53 downloads

   Published

   A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?

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

5. 34 downloads

   Published

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

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