❭ Research by medical division ❭ Paediatric & Adolescent Medicine ❭ Dept. of Rare Disorders & Disabilities ❭ Centre for Rare Disorders ❭

Centre for Rare Disorders

Research at the Centre for Rare Disorders:

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Nasjonalt senter for sjeldne diagnoser (oslo-universitetssykehus.no)

 

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Home Dept. of Rare Disorders & Disabilities Centre for Rare Disorders

  • Group members
  • Publications
  • Research projects

Recent publications

Lee A, Bliksrud YT, Onali M, Neugebauer J, Eyskens F, Haas D, Mossler K, Enekwe A, Kiec-Wilk B, Diep LM, Bellettato CM, Zernikow B, Scarpa M, Rahman S, Tangeraas T, MetabERN collaboration group on palliative care (2025)
Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care
J Inherit Metab Dis, 48 (6), e70095
DOI 10.1002/jimd.70095, PubMed 41137497

Brandtzæg KH, von der Lippe C, Vestengen IK, Holtan JP, Winge MI, Rustad CF, Bergersen TK, Sigurdardottir S, Sjursen W, Gjersvik P, Hortemo KH (2025)
Clinical and genetic findings in 103 individuals with basal cell naevus syndrome in Norway
Br J Dermatol (in press)
DOI 10.1093/bjd/ljaf413, PubMed 41129277

Roman G, Lauritzen KH, Harrison SP, Bhattacharya A, Andresen MS, Mowinckel MC, Smolkova B, Henriksson CE, Glosli H, Iversen N, Thiede B, Sullivan GJ, Almaas R, Sandset PM, Stavik B, Chollet ME (2025)
Ex vivo correction of severe coagulation Factor VII deficiency in patient-derived 3D liver organoids
Haematologica (in press)
DOI 10.3324/haematol.2025.288046, PubMed 41063698

More publications

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