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Page 1
The porphyrias.
Bloomer JR, Bonkovsky HL. Bloomer JR, et al. Among authors: bonkovsky hl. Dis Mon. 1989 Jan;35(1):1-54. doi: 10.1016/0011-5029(89)90003-5. Dis Mon. 1989. PMID: 2645098 Review.
Acute Porphyrias.
Besur S, Schmeltzer P, Bonkovsky HL. Besur S, et al. Among authors: bonkovsky hl. J Emerg Med. 2015 Sep;49(3):305-12. doi: 10.1016/j.jemermed.2015.04.034. Epub 2015 Jul 7. J Emerg Med. 2015. PMID: 26159905 Review.
Acute hepatic porphyrias: Recommendations for evaluation and long-term management.
Balwani M, Wang B, Anderson KE, Bloomer JR, Bissell DM, Bonkovsky HL, Phillips JD, Desnick RJ; Porphyrias Consortium of the Rare Diseases Clinical Research Network. Balwani M, et al. Among authors: bonkovsky hl. Hepatology. 2017 Oct;66(4):1314-1322. doi: 10.1002/hep.29313. Epub 2017 Sep 4. Hepatology. 2017. PMID: 28605040 Free PMC article. Review.
Peripheral Neuropathy and the Ceruloplasmin Gene.
Hines MC Jr, Bonkovsky HL, Rudnick SR, Mhoon JT. Hines MC Jr, et al. Among authors: bonkovsky hl. Ann Intern Med. 2018 Jun 19;168(12):894-895. doi: 10.7326/L17-0621. Epub 2018 Feb 27. Ann Intern Med. 2018. PMID: 29482220 No abstract available.
Acute Hepatic Porphyrias: Review and Recent Progress.
Wang B, Rudnick S, Cengia B, Bonkovsky HL. Wang B, et al. Among authors: bonkovsky hl. Hepatol Commun. 2018 Dec 20;3(2):193-206. doi: 10.1002/hep4.1297. eCollection 2019 Feb. Hepatol Commun. 2018. PMID: 30766957 Free PMC article. Review.
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: bonkovsky hl. 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.
375 results