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Kristoffer Björkman
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Vitamin and cofactor treatment in patients with single large-scale mitochondrial DNA deletion syndrome and POLG disease: an international retrospective study of 352
patients
Erle Kristensen, Kristoffer Björkman, Yngve Thomas Bliksrud, Karin Naess, Martin Engvall, John Vissing, Christopher Lindberg, Claus Klingenberg, Magnhild Rasmussen, Eylert Brodtkorb, Elsebet Ostergaard, Irenaeus de Coo, Leticia Pias-Peleteiro, Pirjo Isohanni, Johanna Uusimaa, Kari Majamaa, Mikko Kärppä, Mika H. Martikainen, Juan Darío Ortigoza-Escobar, Trine Tangeraas, Siren Berland, Carolyn M. Sue, Judith Sylvia Walker, Emma Harrison, Heather Biggs, Rita Horvath, Shamima Rahman, Niklas Darin, Omar Hikmat
Euromit 2026 - 2026 -
Single large-scale mitochondrial DNA deletion syndromes with adult onset - a European
study
Kristoffer Björkman, Irenaeus de Coo, John Vissing, Omar Hikmat, Martin Engvall, Christopher Lindberg, Kari Majamaa, Elsebet Ostergaard, Pirjo Isohanni, Johanna Uusimaa, Karin Naess, Gittan Kollberg, Kristin Nielsen Varhaug, Mar Tulinius, Niklas Darin
15th International Conference of Inborn Errors of Metabolism - 2025 -
Clinical course of patients with single large-scale mtDNA deletions and childhood onset
anemia
Kristoffer Björkman, John Vissing, Elsebet Østergaard, Irenaeus de Coo, Martin Engvall, Omar Hikmat, Pirjo Isohanni, Gittan Kollberg, Karin Naess, Johanna Uusimaa, Laurence A Bindoff, Mar Tulinius, Niklas Darin
14th European Paediatric Neurology Society Congress, Glasgow, UK (ISBN 978-3-00-072065-9) - 2022 -
Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre
study.
Kristoffer Björkman, John Vissing, Elsebet Østergaard, Laurence A Bindoff, Irenaeus F M de Coo, Martin Engvall, Omar Hikmat, Pirjo Isohanni, Gittan Kollberg, Christopher Lindberg, Kari Majamaa, Karin Naess, Johanna Uusimaa, Mar Tulinius, Niklas Darin
Journal of Medical Genetics - 2021 -
Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and
NDUFV1.
Kristoffer Björkman, Kalliopi Sofou, Niklas Darin, Elisabeth Holme, Gittan Kollberg, Jorge Asin-Cayuela, Karin M Holmberg Dahle, Anders Oldfors, Ali-Reza Moslemi, Mar Tulinius
Mitochondrion - 2015 -
Genotype-phenotype correlations in patients with complex I deficiency due to mutations in NDUFS1 and
NDUFV1
Kristoffer Björkman, Kalliopi Sofou, Niklas Darin, Elisabeth Holme, Gittan Kollberg, Jorge Asin-Cayuela, Karin M Holmberg Dahle, Anders Oldfors, Mar Tulinius, Ali-Reza Moslemi
Euromit 2014, 15-19 juni, Tampere, Finland - 2014 -
Personal and professional development effects of involving interns as responsible for improvement
processes
Kristoffer Björkman, Ellinor Almquist, Ulla Strandman, Paulin Andréll, Caterina Finizia
AMEE 2014, 30 August - 3 September 2014, Milan, Italy - 2014 -
Isolated complex I deficiency and atypical clinical courses in three patients due to novel mutations in NDUFS1 and
NDUFV1
Kristoffer Björkman, Kalliopi Sofou, Niklas Darin, Gittan Kollberg, Elisabeth Holme, Mar Tulinius, Anders Oldfors, Ali-Reza Moslemi
European Journal of Paediatric Neurology. 10th EPNS Congress 25-28 September 2013, Brussels, Belgium - 2013