Browsing Sentraladministrasjonen by Journals "Orphanet Journal of Rare Diseases"

Now showing items 1-2 of 2

Effectiveness and safety of everolimus treatment in patients with tuberous sclerosis complex in real-world clinical practice

Cockerell, Ine Tracey; Christensen, Jakob; Hoei-Hansen, Christina; Holst, Lotte; Frediksen, Mikkel G; Issa-Epe, Aart I.; Nedregaard, Bård; Solhoff, Ragnar Håkon; Heimdal, Ketil Riddervold; Landmark, Cecilie Johannessen; Lund, Beate Caroline Pernille; Nærland, Terje (Peer reviewed; Journal article, 2023)

Background The randomised double‑blinded placebo‑controlled EXIST‑1–3 studies have showed everolimus effective with adverse effects reported as acceptable in treatment of symptoms in patients with tuberous sclerosis complex ...
Fatigue in patients with syndromic heritable thoracic aortic disease: a systematic review of the literature and a qualitative study of patients' experiences and perceptions

Velvin, Gry; Johansen, Heidi; Geirdal, Amy Østertun; Bathen, Trine (Peer reviewed; Journal article, 2023)

Introduction The purpose of this study was to explore the literature on fatigue in patients with syndromic herit‑ able thoracic aortic disease (sHTAD), including Marfan syndrome (MFS), Loeys‑Dietz syndrome (LDS), vascular ...