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1.

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.

N Engl J Med ; 388(15): 1376-1385, 2023 Apr 13.

Article in English | MEDLINE | ID: mdl-37043653

2.

Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria.

Balwani, Manisha; Sardh, Eliane; Ventura, Paolo; Peiró, Paula Aguilera; Rees, David C; Stölzel, Ulrich; Bissell, D Montgomery; Bonkovsky, Herbert L; Windyga, Jerzy; Anderson, Karl E; Parker, Charles; Silver, Samuel M; Keel, Siobán B; Wang, Jiaan-Der; Stein, Penelope E; Harper, Pauline; Vassiliou, Daphne; Wang, Bruce; Phillips, John; Ivanova, Aneta; Langendonk, Janneke G; Kauppinen, Raili; Minder, Elisabeth; Horie, Yutaka; Penz, Craig; Chen, Jihong; Liu, Shangbin; Ko, John J; Sweetser, Marianne T; Garg, Pushkal; Vaishnaw, Akshay; Kim, Jae B; Simon, Amy R; Gouya, Laurent.

N Engl J Med ; 382(24): 2289-2301, 2020 06 11.

Article in English | MEDLINE | ID: mdl-32521132

3.

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.

N Engl J Med ; 380(6): 549-558, 2019 02 07.

Article in English | MEDLINE | ID: mdl-30726693

4.

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.

Hepatology ; 73(5): 1736-1746, 2021 05.

Article in English | MEDLINE | ID: mdl-32681675

5.

EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks.

Gouya, Laurent; Ventura, Paolo; Balwani, Manisha; Bissell, D Montgomery; Rees, David C; Stölzel, Ulrich; Phillips, John D; Kauppinen, Raili; Langendonk, Janneke G; Desnick, Robert J; Deybach, Jean-Charles; Bonkovsky, Herbert L; Parker, Charles; Naik, Hetanshi; Badminton, Michael; Stein, Penelope E; Minder, Elisabeth; Windyga, Jerzy; Bruha, Radan; Cappellini, Maria Domenica; Sardh, Eliane; Harper, Pauline; Sandberg, Sverre; Aarsand, Aasne K; Andersen, Janice; Alegre, Félix; Ivanova, Aneta; Talbi, Neila; Chan, Amy; Querbes, William; Ko, John; Penz, Craig; Liu, Shangbin; Lin, Tim; Simon, Amy; Anderson, Karl E.

Hepatology ; 71(5): 1546-1558, 2020 05.

Article in English | MEDLINE | ID: mdl-31512765

6.

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.

Genet Med ; 22(3): 590-597, 2020 03.

Article in English | MEDLINE | ID: mdl-31690837

7.

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.

Genet Med ; 21(11): 2605-2613, 2019 11.

Article in English | MEDLINE | ID: mdl-31073229

8.

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.

N Engl J Med ; 373(1): 48-59, 2015 Jul 02.

Article in English | MEDLINE | ID: mdl-26132941

9.

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.

Hepatology ; 66(4): 1314-1322, 2017 10.

Article in English | MEDLINE | ID: mdl-28605040

10.

Porphyria.

Bissell, D Montgomery; Anderson, Karl E; Bonkovsky, Herbert L.

N Engl J Med ; 377(21): 2101, 2017 11 23.

Article in English | MEDLINE | ID: mdl-29166231

11.

Porphyria.

Bissell, D Montgomery; Anderson, Karl E; Bonkovsky, Herbert L.

N Engl J Med ; 377(9): 862-872, 2017 Aug 31.

Article in English | MEDLINE | ID: mdl-28854095

12.

Pitfalls in Erythrocyte Protoporphyrin Measurement for Diagnosis and Monitoring of Protoporphyrias.

Gou, Eric W; Balwani, Manisha; Bissell, D Montgomery; Bloomer, Joseph R; Bonkovsky, Herbert L; Desnick, Robert J; Naik, Hetanshi; Phillips, John D; Singal, Ashwani K; Wang, Bruce; Keel, Sioban; Anderson, Karl E.

Clin Chem ; 61(12): 1453-6, 2015 Dec.

Article in English | MEDLINE | ID: mdl-26482161

13.

Reply.

Wang, Bruce; Balwani, Manisha; Bonkovsky, Herbert L; Anderson, Karl E; Bloomer, Joseph R; Bissell, D Montgomery; Phillips, John D; Desnick, Robert J.

Hepatology ; 67(2): 803-804, 2018 02.

Article in English | MEDLINE | ID: mdl-29159969

14.

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.

Mol Med ; 19: 26-35, 2013 Apr 30.

Article in English | MEDLINE | ID: mdl-23364466

15.

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.

Mol Genet Metab Rep ; 33: 100939, 2022 Dec.

Article in English | MEDLINE | ID: mdl-36406817

16.

Of mentors, mentoring, and extracellular matrix.

Bissell, D Montgomery.

Hepatology ; 50(5): 1330-8, 2009 Nov.

Article in English | MEDLINE | ID: mdl-19877296

17.

Attenuated response to liver injury in moesin-deficient mice: impaired stellate cell migration and decreased fibrosis.

Okayama, Tokunari; Kikuchi, Shojiro; Ochiai, Toshiya; Ikoma, Hisashi; Kubota, Takeshi; Ichikawa, Daisuke; Fujiwara, Hitoshi; Okamoto, Kazuma; Sakakura, Chouhei; Sonoyama, Teruhisa; Kokuba, Yukihito; Doi, Yoshinori; Tsukita, Sachiko; Bissell, D Montgomery; Otsuji, Eigo.

Biochim Biophys Acta ; 1782(9): 542-8, 2008 Sep.

Article in English | MEDLINE | ID: mdl-18606220

18.

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.

JIMD Rep ; 50(1): 9-19, 2019 Nov.

Article in English | MEDLINE | ID: mdl-31741822

19.

TWEAK induces liver progenitor cell proliferation.

Jakubowski, Aniela; Ambrose, Christine; Parr, Michael; Lincecum, John M; Wang, Monica Z; Zheng, Timothy S; Browning, Beth; Michaelson, Jennifer S; Baetscher, Manfred; Baestcher, Manfred; Wang, Bruce; Bissell, D Montgomery; Burkly, Linda C.

J Clin Invest ; 115(9): 2330-40, 2005 Sep.

Article in English | MEDLINE | ID: mdl-16110324

20.

Role of alphavbeta6 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.

Hepatology ; 46(5): 1404-12, 2007 Nov.

Article in English | MEDLINE | ID: mdl-17924447

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Dersimelagon in Erythropoietic Protoporphyrias.

Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria.

Phase 1 Trial of an RNA Interference Therapy for Acute Intermittent Porphyria.

Hepatocellular Carcinoma in Acute Hepatic Porphyrias: Results from the Longitudinal Study of the U.S. Porphyrias Consortium.

EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks.

Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria.

International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.

Afamelanotide for Erythropoietic Protoporphyria.

Acute hepatic porphyrias: Recommendations for evaluation and long-term management.

Porphyria.

Porphyria.

Pitfalls in Erythrocyte Protoporphyrin Measurement for Diagnosis and Monitoring of Protoporphyrias.

Reply.

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.

A pilot study of oral iron therapy in erythropoietic protoporphyria and X-linked protoporphyria.

Of mentors, mentoring, and extracellular matrix.

Attenuated response to liver injury in moesin-deficient mice: impaired stellate cell migration and decreased fibrosis.

Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X-linked protoporphyria.

TWEAK induces liver progenitor cell proliferation.

Role of alphavbeta6 integrin in acute biliary fibrosis.