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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. Among authors: sandberg s. 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.
The incidence of inherited porphyrias in Europe.
Elder G, Harper P, Badminton M, Sandberg S, Deybach JC. Elder G, et al. Among authors: sandberg s. 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
Diagnosing acute porphyrias.
Sandberg S, Elder GH. Sandberg S, et al. Clin Chem. 2004 May;50(5):803-5. doi: 10.1373/clinchem.2003.027623. Clin Chem. 2004. PMID: 15105348 No abstract available.
EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks.
Gouya L, Ventura P, Balwani M, Bissell DM, Rees DC, Stölzel U, Phillips JD, Kauppinen R, Langendonk JG, Desnick RJ, Deybach JC, Bonkovsky HL, Parker C, Naik H, Badminton M, Stein PE, Minder E, Windyga J, Bruha R, Cappellini MD, Sardh E, Harper P, Sandberg S, Aarsand AK, Andersen J, Alegre F, Ivanova A, Talbi N, Chan A, Querbes W, Ko J, Penz C, Liu S, Lin T, Simon A, Anderson KE. Gouya L, et al. Among authors: sandberg s. Hepatology. 2020 May;71(5):1546-1558. doi: 10.1002/hep.30936. Epub 2019 Nov 7. Hepatology. 2020. PMID: 31512765 Free PMC article.
Recurrent attacks of acute hepatic porphyria: major role of the chronic inflammatory response in the liver.
Schmitt C, Lenglet H, Yu A, Delaby C, Benecke A, Lefebvre T, Letteron P, Paradis V, Wahlin S, Sandberg S, Harper P, Sardh E, Sandvik AK, Hov JR, Aarsand AK, Chiche L, Bazille C, Scoazec JY, To-Figueras J, Carrascal M, Abian J, Mirmiran A, Karim Z, Deybach JC, Puy H, Peoc'h K, Manceau H, Gouya L. Schmitt C, et al. Among authors: sandberg s. J Intern Med. 2018 Jul;284(1):78-91. doi: 10.1111/joim.12750. Epub 2018 Mar 26. J Intern Med. 2018. PMID: 29498764 Free article.
Porphyrias in Norway.
Mykletun M, Aarsand AK, Støle E, Villanger JH, Tollånes MC, Baravelli C, Sandberg S. Mykletun M, et al. Among authors: sandberg s. 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 Free article. English, Norwegian.
541 results