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A Pharmacological Chaperone Therapy for Acute Intermittent Porphyria.
Bustad HJ, Toska K, Schmitt C, Vorland M, Skjærven L, Kallio JP, Simonin S, Letteron P, Underhaug J, Sandberg S, Martinez A. Bustad HJ, et al. Among authors: sandberg s. Mol Ther. 2020 Feb 5;28(2):677-689. doi: 10.1016/j.ymthe.2019.11.010. Epub 2019 Dec 4. Mol Ther. 2020. PMID: 31810863 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.
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.
518 results