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Acute intermittent porphyria-related leukoencephalopathy.
Kevelam SH, Neeleman RA, Waisfisz Q, Friesema EC, Langendonk JG, van der Knaap MS. Kevelam SH, et al. Among authors: friesema ec. Neurology. 2016 Sep 20;87(12):1258-65. doi: 10.1212/WNL.0000000000003129. Epub 2016 Aug 24. Neurology. 2016. PMID: 27558376
Osteoporosis in patients with erythropoietic protoporphyria.
Biewenga M, Matawlie RHS, Friesema ECH, Koole-Lesuis H, Langeveld M, Wilson JHP, Langendonk JG. Biewenga M, et al. Br J Dermatol. 2017 Dec;177(6):1693-1698. doi: 10.1111/bjd.15893. Epub 2017 Nov 22. Br J Dermatol. 2017. PMID: 28815553
Medical and financial burden of acute intermittent porphyria.
Neeleman RA, Wagenmakers MAEM, Koole-Lesuis RH, Mijnhout GS, Wilson JHP, Friesema ECH, Langendonk JG. Neeleman RA, et al. J Inherit Metab Dis. 2018 Sep;41(5):809-817. doi: 10.1007/s10545-018-0178-z. Epub 2018 Apr 19. J Inherit Metab Dis. 2018. PMID: 29675607 Free PMC article.
Correction to: Medical and financial burden of acute intermittent porphyria.
Neeleman RA, Wagenmakers MAEM, Koole-Lesuis RH, Mijnhout GS, Wilson JHP, Friesema ECH, Langendonk JG. Neeleman RA, et al. Among authors: friesema ech. J Inherit Metab Dis. 2018 Nov;41(6):1297-1298. doi: 10.1007/s10545-018-0216-x. J Inherit Metab Dis. 2018. PMID: 30054762 Free PMC 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: friesema ech. 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.
Diagnostic and therapeutic strategies for porphyrias.
Neeleman RA, Wensink D, Wagenmakers MAEM, Mijnhout GS, Friesema ECH, Langendonk JG. Neeleman RA, et al. Among authors: friesema ech. Neth J Med. 2020 Jul;78(4):149-160. Neth J Med. 2020. PMID: 32641543 Free article. Review.
Mortality in Pedigrees with Acute Intermittent Porphyria.
Neeleman R, Musters K, Wagenmakers M, Mijnhout S, Friesema E, Sijbrands E, Langendonk J. Neeleman R, et al. Life (Basel). 2022 Dec 8;12(12):2059. doi: 10.3390/life12122059. Life (Basel). 2022. PMID: 36556425 Free PMC article.
63 results