Porphyria
Bissell, D. Montgomery, Anderson, Karl E, Bonkovsky, Herbert L
Published in The New England journal of medicine (31.08.2017)
Published in The New England journal of medicine (31.08.2017)
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Journal Article
Phase 1 Trial of an RNA Interference Therapy for Acute Intermittent Porphyria
Sardh, Eliane, Harper, Pauline, Balwani, Manisha, Stein, Penelope, Rees, David, Bissell, D. Montgomery, Desnick, Robert, Parker, Charles, Phillips, John, Bonkovsky, Herbert L, Vassiliou, Daphne, Penz, Craig, Chan-Daniels, Amy, He, Qiuling, Querbes, William, Fitzgerald, Kevin, Kim, Jae B, Garg, Pushkal, Vaishnaw, Akshay, Simon, Amy R, Anderson, Karl E
Published in The New England journal of medicine (07.02.2019)
Published in The New England journal of medicine (07.02.2019)
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Journal Article
Acute hepatic porphyrias: Recommendations for evaluation and long‐term management
Balwani, Manisha, Wang, Bruce, Anderson, Karl E., Bloomer, Joseph R., Bissell, D. Montgomery, Bonkovsky, Herbert L., Phillips, John D., Desnick, Robert J.
Published in Hepatology (Baltimore, Md.) (01.10.2017)
Published in Hepatology (Baltimore, Md.) (01.10.2017)
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Journal Article
Efficacy and safety of givosiran for acute hepatic porphyria: 24‐month interim analysis of the randomized phase 3 ENVISION study
Ventura, Paolo, Bonkovsky, Herbert L., Gouya, Laurent, Aguilera‐Peiró, Paula, Montgomery Bissell, D., Stein, Penelope E., Balwani, Manisha, Anderson, D. Karl E., Parker, Charles, Kuter, David J., Monroy, Susana, Oh, Jeeyoung, Ritchie, Bruce, Ko, John J., Hua, Zhaowei, Sweetser, Marianne T., Sardh, Eliane
Published in Liver international (01.01.2022)
Published in Liver international (01.01.2022)
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Journal Article
Acute Porphyrias in the USA: Features of 108 Subjects from Porphyrias Consortium
Bonkovsky, Herbert L., MD, Maddukuri, Vinaya C., MD, Yazici, Cemal, MD, Anderson, Karl E., MD, Bissell, D. Montgomery, MD, Bloomer, Joseph R., MD, Phillips, John D., PhD, Naik, Hetanshi, MSc, Peter, Inga, PhD, Baillargeon, Gwen, MSc, Bossi, Krista, MSc, Gandolfo, Laura, MSc, Light, Carrie, MSc, Bishop, David, PhD, Desnick, Robert J., MD, PhD
Published in The American journal of medicine (01.12.2014)
Published in The American journal of medicine (01.12.2014)
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Journal Article
Dersimelagon in Erythropoietic Protoporphyrias
Balwani, Manisha, Bonkovsky, Herbert L., Levy, Cynthia, Anderson, Karl E., Bissell, D. Montgomery, Parker, Charles, Takahashi, Fumihiro, Desnick, Robert J., Belongie, Kirstine
Published in The New England journal of medicine (13.04.2023)
Published in The New England journal of medicine (13.04.2023)
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Journal Article
Hepatocellular Carcinoma in Acute Hepatic Porphyrias: Results from the Longitudinal Study of the U.S. Porphyrias Consortium
Saberi, Behnam, Naik, Hetanshi, Overbey, Jessica R., Erwin, Angelika L., Anderson, Karl E., Bissell, D. Montgomery, Bonkovsky, Herbert L., Phillips, John D., Wang, Bruce, K.Singal, Ashwani, M.McGuire, Brendan, Desnick, Robert J., Balwani, Manisha
Published in Hepatology (Baltimore, Md.) (01.05.2021)
Published in Hepatology (Baltimore, Md.) (01.05.2021)
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Journal Article
Afamelanotide for Erythropoietic Protoporphyria
Langendonk, Janneke G, Balwani, Manisha, Anderson, Karl E, Bonkovsky, Herbert L, Anstey, Alexander V, Bissell, D. Montgomery, Bloomer, Joseph, Edwards, Chris, Neumann, Norbert J, Parker, Charles, Phillips, John D, Lim, Henry W, Hamzavi, Iltefat, Deybach, Jean-Charles, Kauppinen, Raili, Rhodes, Lesley E, Frank, Jorge, Murphy, Gillian M, Karstens, Francois P.J, Sijbrands, Eric J.G, de Rooij, Felix W.M, Lebwohl, Mark, Naik, Hetanshi, Goding, Colin R, Wilson, J.H. Paul, Desnick, Robert J
Published in The New England journal of medicine (02.07.2015)
Published in The New England journal of medicine (02.07.2015)
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Journal Article
Acute Hepatic Porphyria
Bissell, D Montgomery, Wang, Bruce
Published in Journal of clinical and translational hepatology (01.03.2015)
Published in Journal of clinical and translational hepatology (01.03.2015)
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Journal Article
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, Manisha, Doheny, Dana, Bishop, David F, Nazarenko, Irina, Yasuda, Makiko, Dailey, Harry A, Anderson, Karl E, Bissell, D Montgomery, Bloomer, Joseph, Bonkovsky, Herbert L, Phillips, John D, Liu, Lawrence, Desnick, Robert J
Published in Molecular medicine (Cambridge, Mass.) (01.01.2013)
Published in Molecular medicine (Cambridge, Mass.) (01.01.2013)
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Journal Article
Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria
Naik, Hetanshi, Overbey, Jessica R., Montgomery, Guy H., Winkel, Gary, Balwani, Manisha, Anderson, Karl E., Bissell, D. Montgomery, Bonkovsky, Herbert L., Phillips, John D., Wang, Bruce, McGuire, Brendan, Keel, Siobán, Levy, Cynthia, Erwin, Angelika, Desnick, Robert J.
Published in Genetics in medicine (01.03.2020)
Published in Genetics in medicine (01.03.2020)
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Journal Article
Hepatic fibrosis 2006: Report of the third AASLD Single Topic Conference
Friedman, Scott L., Rockey, Don C., Bissell, D. Montgomery
Published in Hepatology (Baltimore, Md.) (01.01.2007)
Published in Hepatology (Baltimore, Md.) (01.01.2007)
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Journal Article
Conference Proceeding
Role of αvβ6 integrin in acute biliary fibrosis
Wang, Bruce, Dolinski, Brian M., Kikuchi, Noriko, Leone, Diane R., Peters, Marion G., Weinreb, Paul H., Violette, Shelia M., Bissell, D. Montgomery
Published in Hepatology (Baltimore, Md.) (01.11.2007)
Published in Hepatology (Baltimore, Md.) (01.11.2007)
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Journal Article
A pilot study of oral iron therapy in erythropoietic protoporphyria and X-linked protoporphyria
Balwani, Manisha, Naik, Hetanshi, Overbey, Jessica R., Bonkovsky, Herbert L., Bissell, D. Montgomery, Wang, Bruce, Phillips, John D., Desnick, Robert J., Anderson, Karl E.
Published in Molecular genetics and metabolism reports (01.12.2022)
Published in Molecular genetics and metabolism reports (01.12.2022)
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Journal Article
International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias
Chen, Brenden, Whatley, Sharon, Badminton, Michael, Aarsand, Aasne K., Anderson, Karl E., Bissell, D. Montgomery, Bonkovsky, Herbert L., Cappellini, Maria D., Floderus, Ylva, Friesema, Edith C. H., Gouya, Laurent, Harper, Pauline, Kauppinen, Raili, Loskove, Yonina, Martásek, Pavel, Phillips, John D., Puy, Hervé, Sandberg, Sverre, Schmitt, Caroline, To-Figueras, Jordi, Weiss, Yedidyah, Yasuda, Makiko, Deybach, Jean-Charles, Desnick, Robert J.
Published in Genetics in medicine (01.11.2019)
Published in Genetics in medicine (01.11.2019)
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Journal Article
Therapy for hepatic fibrosis: Revisiting the preclinical models
Bissell, D. Montgomery
Published in Clinics and research in hepatology and gastroenterology (01.09.2011)
Published in Clinics and research in hepatology and gastroenterology (01.09.2011)
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Journal Article
Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X‐linked protoporphyria
Naik, Hetanshi, Overbey, Jessica R., Desnick, Robert J., Anderson, Karl E., Bissell, D. Montgomery, Bloomer, Joseph, Bonkovsky, Herbert L., Phillips, John D., Wang, Bruce, Singal, Ashwani, Balwani, Manisha
Published in JIMD reports (01.11.2019)
Published in JIMD reports (01.11.2019)
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Journal Article