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The incidence of inherited porphyrias in Europe.
Elder G, Harper P, Badminton M, Sandberg S, Deybach JC. Elder G, et al. J Inherit Metab Dis. 2013 Sep;36(5):849-57. doi: 10.1007/s10545-012-9544-4. Epub 2012 Nov 1. J Inherit Metab Dis. 2013. PMID: 23114748
International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.
Chen B, Whatley S, Badminton M, Aarsand AK, Anderson KE, Bissell DM, Bonkovsky HL, Cappellini MD, Floderus Y, Friesema ECH, Gouya L, Harper P, Kauppinen R, Loskove Y, Martásek P, Phillips JD, Puy H, Sandberg S, Schmitt C, To-Figueras J, Weiss Y, Yasuda M, Deybach JC, Desnick RJ. Chen B, et al. Genet Med. 2019 Nov;21(11):2605-2613. doi: 10.1038/s41436-019-0537-7. Epub 2019 May 10. Genet Med. 2019. PMID: 31073229 Free PMC article.
Porphyrias in Norway.
Mykletun M, Aarsand AK, Støle E, Villanger JH, Tollånes MC, Baravelli C, Sandberg S. Mykletun M, et al. Tidsskr Nor Laegeforen. 2014 Apr 29;134(8):831-6. doi: 10.4045/tidsskr.13.0649. eCollection 2014 Apr 29. Tidsskr Nor Laegeforen. 2014. PMID: 24780981 English, Norwegian.
Estimation and application of biological variation of urinary delta-aminolevulinic acid and porphobilinogen in healthy individuals and in patients with acute intermittent porphyria.
Aarsand AK, Petersen PH, Sandberg S. Aarsand AK, et al. Clin Chem. 2006 Apr;52(4):650-6. doi: 10.1373/clinchem.2005.060772. Clin Chem. 2006. PMID: 16595824
CONCLUSIONS: In an AIP patient, a 2-fold increase in PBG, independent of the baseline concentration, will be detected with a probability >80% and is most likely related to the patient's disease and not caused only by analytical and biological variation. ...
CONCLUSIONS: In an AIP patient, a 2-fold increase in PBG, independent of the baseline concentration, will be detected with a probability > …
Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria.
Bustad HJ, Vorland M, Rønneseth E, Sandberg S, Martinez A, Toska K. Bustad HJ, et al. Biosci Rep. 2013 Aug 8;33(4):e00056. doi: 10.1042/BSR20130045. Biosci Rep. 2013. PMID: 23815679 Free PMC article.
Self-efficacy and self-management strategies in acute intermittent porphyria.
Hammersland MH, Aarsand AK, Sandberg S, Andersen J. Hammersland MH, et al. BMC Health Serv Res. 2019 Jul 3;19(1):444. doi: 10.1186/s12913-019-4285-9. BMC Health Serv Res. 2019. PMID: 31269991 Free PMC article.
European porphyria initiative (EPI): a platform to develop a common approach to the management of porphyrias and to promote research in the field.
Deybach JC, Badminton M, Puy H, Sandberg S, Frank J, Harper P, Martasek P, Minder E, Parker S, Thunell S, Elder G. Deybach JC, et al. Physiol Res. 2006;55 Suppl 2:S67-73. Physiol Res. 2006. PMID: 17298223
EPI's current objectives are to develop the EPI platform, expand to new countries, extend to non-acute porphyrias and design European research and clinical trials in porphyria. ...
EPI's current objectives are to develop the EPI platform, expand to new countries, extend to non-acute porphyrias and design European …
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