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330 results

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Page 1
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: phillips jd. Mol Med. 2013 Apr 30;19(1):26-35. doi: 10.2119/molmed.2012.00340. Mol Med. 2013. PMID: 23364466 Free PMC article.
RNAi-mediated silencing of hepatic Alas1 effectively prevents and treats the induced acute attacks in acute intermittent porphyria mice.
Yasuda M, Gan L, Chen B, Kadirvel S, Yu C, Phillips JD, New MI, Liebow A, Fitzgerald K, Querbes W, Desnick RJ. Yasuda M, et al. Among authors: phillips jd. Proc Natl Acad Sci U S A. 2014 May 27;111(21):7777-82. doi: 10.1073/pnas.1406228111. Epub 2014 May 12. Proc Natl Acad Sci U S A. 2014. PMID: 24821812 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. Among authors: phillips jd. 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.
Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver.
Yasuda M, Erwin AL, Liu LU, Balwani M, Chen B, Kadirvel S, Gan L, Fiel MI, Gordon RE, Yu C, Clavero S, Arvelakis A, Naik H, Martin LD, Phillips JD, Anderson KE, Sadagoparamanujam VM, Florman SS, Desnick RJ. Yasuda M, et al. Among authors: phillips jd. Mol Med. 2015 Jun 5;21(1):487-95. doi: 10.2119/molmed.2015.00099. Mol Med. 2015. PMID: 26062020 Free PMC article.
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: phillips jd. 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.
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: phillips jd. Hepatology. 2017 Oct;66(4):1314-1322. doi: 10.1002/hep.29313. Epub 2017 Sep 4. Hepatology. 2017. PMID: 28605040 Free PMC article. Review.
Reply.
Wang B, Balwani M, Bonkovsky HL, Anderson KE, Bloomer JR, Bissell DM, Phillips JD, Desnick RJ; Porphyrias Consortium of the Rare Diseases Clinical Research Network. Wang B, et al. Among authors: phillips jd. Hepatology. 2018 Feb;67(2):803-804. doi: 10.1002/hep.29674. Epub 2018 Jan 2. Hepatology. 2018. PMID: 29159969 No abstract available.
330 results