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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.
High risk of primary liver cancer in a cohort of 179 patients with Acute Hepatic Porphyria.
Sardh E, Wahlin S, Björnstedt M, Harper P, Andersson DE. Sardh E, et al. J Inherit Metab Dis. 2013 Nov;36(6):1063-71. doi: 10.1007/s10545-012-9576-9. Epub 2013 Jan 23. J Inherit Metab Dis. 2013. PMID: 23344888
Mean tumour size was 4.3 cm in the surveillance group and 10.3 cm in the non-surveillance group (p = 0.01). The overall relative risk of primary liver cancer was 86 above the age of 50: 150 for women and 37 for men. ...
Mean tumour size was 4.3 cm in the surveillance group and 10.3 cm in the non-surveillance group (p = 0.01). The overall relative risk …
Combined liver and kidney transplantation in acute intermittent porphyria.
Wahlin S, Harper P, Sardh E, Andersson C, Andersson DE, Ericzon BG. Wahlin S, et al. Transpl Int. 2010 Jun;23(6):e18-21. doi: 10.1111/j.1432-2277.2009.01035.x. Epub 2009 Dec 16. Transpl Int. 2010. PMID: 20028496
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
Porphyria in Sweden.
Thunell S, Floderus Y, Henrichson A, Harper P. Thunell S, et al. Physiol Res. 2006;55 Suppl 2:S109-18. Physiol Res. 2006. PMID: 17298215 Review.
Phase I open label liver-directed gene therapy clinical trial for acute intermittent porphyria.
D'Avola D, López-Franco E, Sangro B, Pañeda A, Grossios N, Gil-Farina I, Benito A, Twisk J, Paz M, Ruiz J, Schmidt M, Petry H, Harper P, de Salamanca RE, Fontanellas A, Prieto J, González-Aseguinolaza G. D'Avola D, et al. J Hepatol. 2016 Oct;65(4):776-783. doi: 10.1016/j.jhep.2016.05.012. Epub 2016 May 17. J Hepatol. 2016. PMID: 27212246 Clinical Trial.
Vitamin D-binding protein as a biomarker of active disease in acute intermittent porphyria.
Serrano-Mendioroz I, Sampedro A, Mora MI, Mauleón I, Segura V, Enríquez de Salamanca R, Harper P, Sardh E, Corrales FJ, Fontanellas A. Serrano-Mendioroz I, et al. J Proteomics. 2015 Sep 8;127(Pt B):377-85. doi: 10.1016/j.jprot.2015.05.004. Epub 2015 May 13. J Proteomics. 2015. PMID: 25979770 Clinical Trial.
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