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372 results

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Page 1
Afamelanotide for Erythropoietic Protoporphyria.
Langendonk JG, Balwani M, Anderson KE, Bonkovsky HL, Anstey AV, Bissell DM, Bloomer J, Edwards C, Neumann NJ, Parker C, Phillips JD, Lim HW, Hamzavi I, Deybach JC, Kauppinen R, Rhodes LE, Frank J, Murphy GM, Karstens FPJ, Sijbrands EJG, de Rooij FWM, Lebwohl M, Naik H, Goding CR, Wilson JHP, Desnick RJ. Langendonk JG, et al. Among authors: bonkovsky hl. N Engl J Med. 2015 Jul 2;373(1):48-59. doi: 10.1056/NEJMoa1411481. N Engl J Med. 2015. PMID: 26132941 Free PMC article. Clinical Trial.
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.
Recommendations for the diagnosis and treatment of the acute porphyrias.
Anderson KE, Bloomer JR, Bonkovsky HL, Kushner JP, Pierach CA, Pimstone NR, Desnick RJ. Anderson KE, et al. Among authors: bonkovsky hl. Ann Intern Med. 2005 Mar 15;142(6):439-50. doi: 10.7326/0003-4819-142-6-200503150-00010. Ann Intern Med. 2005. PMID: 15767622 Review.
Liver transplantation for erythropoietic protoporphyria liver disease.
McGuire BM, Bonkovsky HL, Carithers RL Jr, Chung RT, Goldstein LI, Lake JR, Lok AS, Potter CJ, Rand E, Voigt MD, Davis PR, Bloomer JR. McGuire BM, et al. Among authors: bonkovsky hl. Liver Transpl. 2005 Dec;11(12):1590-6. doi: 10.1002/lt.20620. Liver Transpl. 2005. PMID: 16315313 Free article.
Reconstitution of hematin for intravenous infusion.
Anderson KE, Bonkovsky HL, Bloomer JR, Shedlofsky SI. Anderson KE, et al. Among authors: bonkovsky hl. Ann Intern Med. 2006 Apr 4;144(7):537-8. doi: 10.7326/0003-4819-144-7-200604040-00023. Ann Intern Med. 2006. PMID: 16585674 No abstract available.
Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.
Balwani M, Doheny D, Bishop DF, Nazarenko I, Yasuda M, Dailey HA, Anderson KE, Bissell DM, Bloomer J, Bonkovsky HL, Phillips JD, Liu L, Desnick RJ; Porphyrias Consortium of the National Institutes of Health Rare Diseases Clinical Research Network. Balwani M, et al. Among authors: bonkovsky hl. Mol Med. 2013 Apr 30;19(1):26-35. doi: 10.2119/molmed.2012.00340. Mol Med. 2013. PMID: 23364466 Free PMC article.
Acute porphyrias in the USA: features of 108 subjects from porphyrias consortium.
Bonkovsky HL, Maddukuri VC, Yazici C, Anderson KE, Bissell DM, Bloomer JR, Phillips JD, Naik H, Peter I, Baillargeon G, Bossi K, Gandolfo L, Light C, Bishop D, Desnick RJ. Bonkovsky HL, et al. Am J Med. 2014 Dec;127(12):1233-41. doi: 10.1016/j.amjmed.2014.06.036. Epub 2014 Jul 10. Am J Med. 2014. PMID: 25016127 Free PMC article.
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.
372 results