1. Fat oxidation is impaired during exercise in lipin-1 deficiency. (8th October 2019) Authors: Raaschou-Pedersen, Daniel; Madsen, Karen L.; Stemmerik, Mads G.; Eisum, Anne-Sofie V.; Straub, Volker; Vissing, John Journal: Neurology Issue: Volume 93:Number 15(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Impaired fat oxidation during exercise in multiple acyl‐CoA dehydrogenase deficiency. Issue 1 (14th March 2019) Authors: Madsen, Karen L.; Preisler, Nicolai; Buch, Astrid E.; Stemmerik, Mads G.; Laforêt, Pascal; Vissing, John Journal: JIMD reports Issue: Volume 46:Issue 1(2019) Page Start: 79 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Myopathy can be a key phenotype of membrin (GOSR2) deficiency. Issue 9 (6th July 2021) Authors: Stemmerik, Mads G.; Borch, Josefine de S.; Dunø, Morten; Krag, Thomas; Vissing, John Journal: Human mutation Issue: Volume 42:Issue 9(2021) Page Start: 1101 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. No effect of triheptanoin on exercise performance in McArdle disease. Issue 10 (14th September 2019) Authors: Madsen, Karen L.; Laforêt, Pascal; Buch, Astrid E.; Stemmerik, Mads G.; Ottolenghi, Chris; Hatem, Stéphane N.; Raaschou‐Pedersen, Daniel T.; Poulsen, Nanna S.; Atencio, Maria; Luton, Marie‐Pierre; Ceccaldi, Alexandre; Haller, Ronald G.; Quinlivan, Ros; Mochel, Fanny; Vissing, John Journal: Annals of clinical and translational neurology Issue: Volume 6:Issue 10(2019) Page Start: 1949 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗