Zobrazeno 1 - 10
of 53
pro vyhledávání: '"Penelope E. Stein"'
Autor:
Mykhaylo Demydchuk, Chris H. Hill, Aiwu Zhou, Gábor Bunkóczi, Penelope E. Stein, Denis Marchesan, Janet E. Deane, Randy J. Read
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-9 (2017)
Hunter syndrome is a lysosomal storage disease caused by mutations in the enzyme iduronate-2-sulfatase (IDS). Here, the authors present the IDS crystal structure and give mechanistic insights into mutations that cause Hunter syndrome.
Externí odkaz:
https://doaj.org/article/73c38b90598b4907b8cedce5ff4f26cb
Autor:
D Karl E Anderson, Paula Aguilera-Peiró, Laurent Gouya, David J. Kuter, Charles J. Parker, Zhaowei Hua, Marianne T. Sweetser, Herbert L. Bonkovsky, Penelope E. Stein, Bruce Ritchie, Envision Investigators, Manisha Balwani, John J. Ko, Eliane Sardh, Paolo Ventura, Susana Monroy, D. Montgomery Bissell, Jeeyoung Oh
Publikováno v:
Liver International. 42:161-172
Background & aims Upregulation of hepatic delta-aminolevulinic acid synthase 1 with accumulation of potentially toxic heme precursors delta-aminolevulinic acid and porphobilinogen is fundamental to the pathogenesis of acute hepatic porphyria. Aims ev
Autor:
Laurent Gouya, D. Montgomery Bissell, David J. Kuter, Marianne T. Sweetser, Herbert L. Bonkovsky, Paolo Ventura, Paula Aguilera Peiró, Eliane Sardh, Karl E. Anderson, Jeeyoung Oh, Penelope E. Stein, Zhaowei Hua, John J. Ko, Susana Monroy
Publikováno v:
American Journal of Gastroenterology. 116:S545-S546
Autor:
Herbert L. Bonkovsky, D. Montgomery Bissell, Félix Alegre, Amy Simon, Aasne K. Aarsand, Shangbin Liu, Karl E. Anderson, Robert J. Desnick, Michael Norman Badminton, Penelope E. Stein, Neila Talbi, Maria Domenica Cappellini, Amy Chan, Pauline Harper, Elisabeth I. Minder, Manisha Balwani, Janice Andersen, Laurent Gouya, Raili Kauppinen, William Querbes, David C. Rees, Hetanshi Naik, Janneke G. Langendonk, Sverre Sandberg, Aneta Ivanova, John D. Phillips, Tim Lin, John J. Ko, Radan Bruha, Ulrich Stölzel, Eliane Sardh, Jerzy Windyga, Charles J. Parker, Jean Charles Deybach, Craig Penz, Paolo Ventura
Publikováno v:
Gouya, L, Ventura, P, Balwani, M, Bissell, D M, Rees, D C, Stölzel, U, Phillips, J D, Kauppinen, R, Langendonk, J G, Desnick, R J, Deybach, J C, Bonkovsky, H L, Parker, C, Naik, H, Badminton, M, Stein, P E, Minder, E, Windyga, J, Bruha, R, Cappellini, M D, Sardh, E, Harper, P, Sandberg, S, Aarsand, A K, Andersen, J, Alegre, F, Ivanova, A, Talbi, N, Chan, A, Querbes, W, Ko, J, Penz, C, Liu, S, Lin, T, Simon, A & Anderson, K E 2019, ' EXPLORE : A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks ', Hepatology . https://doi.org/10.1002/hep.30936
Hepatology, 71(5), 1546-1558. John Wiley & Sons Ltd.
Hepatology (Baltimore, Md.)
Hepatology, 71(5), 1546-1558. John Wiley & Sons Ltd.
Hepatology (Baltimore, Md.)
Acute hepatic porphyria comprises a group of rare, genetic diseases caused by mutations in genes involved in heme biosynthesis. Patients can experience acute neurovisceral attacks, debilitating chronic symptoms, and long-term complications. There is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b4d56697a99116329133661e8d7e805
http://hdl.handle.net/10138/316254
http://hdl.handle.net/10138/316254
Autor:
Aneta Ivanova, Peter Stewart, John D. Phillips, Tomohide Adachi, Craig Penz, Samuel M. Silver, Ulrich Stölzel, Amy Simon, Pauline Harper, John J. Ko, Petro E. Petrides, Janneke G. Langendonk, Manisha Balwani, Gayle Ross, Daphne Vassiliou, Shangbin Liu, Herbert L. Bonkovsky, Jerzy Windyga, Charles J. Parker, David C. Rees, Sioban Keel, Jiaan-Der Wang, Karl E. Anderson, D. Montgomery Bissell, Penelope E. Stein, Maria Domenica Cappellini, Sushama Scalera, Paula Aguilera Peiró, David J. Kuter, Laurent Gouya, Paolo Ventura, Susana Monroy, Delia D'Avola, Bruce Ritchie, Yutaka Horie, Eliane Sardh
Publikováno v:
American Journal of Gastroenterology. 115:S584-S585
Autor:
Daphne Vassiliou, Sioban Keel, Penelope E. Stein, Manisha Balwani, Hung-Chou Kuo, Gayle Ross, D. Montgomery Bissell, Jerzy Windyga, Charles J. Parker, David C. Rees, Samuel M. Silver, Paolo Ventura, Elisabeth I. Minder, Paula Aguilera Peiró, Ulrich Stölzel, John J. Ko, Janneke G. Langendonk, Bruce Ritchie, Jiaan-Der Wang, Eliane Sardh, Ilja Kubisch, Encarna Guillen-Navarro, David Coman, Karl E. Anderson, Zoe Hua, Herbert L. Bonkovsky, Pauline Harper, Laurent Gouya, Delia D'Avola, Yutaka Horie, Yoshie Goto, Amy Simon, Jeeyoung Oh, Aneta Ivanova, Peter Stewart
Publikováno v:
American Journal of Gastroenterology. 115:S578-S578
Autor:
Eliane Sardh, Ulrich Stölzel, Gayle Ross, Daphne Vassiliou, Jerzy Windyga, Charles J. Parker, Amy Simon, Sioban Keel, Raili Kauppinen, Craig Penz, T. Lin, Janneke G. Langendonk, Yutaka Horie, Paolo Ventura, Penelope E. Stein, A. Sasapu, Bruce Ritchie, Bruce Wang, Aneta Ivanova, Laurent Gouya, Peter Stewart, John D. Phillips, Delia D'Avola, T. Nakahara, Manisha Balwani, Karl E. Anderson, D.M. Bissell, David C. Rees, P. Aguilera Peiro, Herbert L. Bonkovsky, Pauline Harper, Samuel M. Silver, Jeeyoung Oh, John J. Ko, Jiaan-Der Wang, O. Hother-Nielsen, M.J. Lee, Sushama Scalera
Publikováno v:
Sardh, E, Gouya, L, Rees, D C, Stein, P, Stoelzel, U, Aguilera Peiro, P, Bissell, D M, Bonkovsky, H L, Keel, S, Parker, C, Phillips, J D, Silver, S, Windyga, J, D'Avola, D, Ross, G, Stewart, P, Ritchie, B, Oh, J, Harper, P, Wang, J D, Langendonk, J G, Ivanova, A, Horie, Y, Anderson, K E, Ventura, P, Kauppinen, R, Vassiliou, D, Wang, B, Hother-Nielsen, O, Nakahara, T, Lee, M J, Sasapu, A, Scalera, S, Lin, T, Penz, C, Simon, A, Ko, J & Balwani, M 2020, ' Overall Health, Daily Functioning, and Quality of Life in Acute Hepatic Porphyria Patients : ENVISION, a Phase 3 Global, Multicenter, Randomized, Double-Blind, Placebo-Controlled Trial ', Digestive and Liver Disease, vol. 52, no. Suppl. 1, pp. E35 . https://doi.org/10.1016/j.dld.2019.12.123
Autor:
Herbert L. Bonkovsky, Félix Alegre, Penelope E. Stein, Aasne K. Aarsand, Aneta Ivanova, Michael Norman Badminton, John D. Phillips, Raili Kauppinen, Paolo Ventura, Janneke G. Langendonk, Karl E. Anderson, Amy Simon, Hetanshi Naik, Robert J. Desnick, Dalia Cahana-Amitay, D. Montgomery Bissell, Amy Chan, Jerzy Windyga, Maria Domenica Cappellini, Charles J. Parker, Jean Charles Deybach, Pauline Harper, Laurent Gouya, Manisha Balwani, Elisabeth I. Minder, David C. Rees, Quinn Dinh, Pavel Martásek, Sverre Sandberg, Craig Penz, Neila Talbi, Ulrich Stölzel, Eliane Sardh, John J. Ko, Tim Lin
Publikováno v:
Journal of Hepatology. 70:e589-e590
Autor:
Craig Penz, Delia D'Avola, Paula Aguilera, Yutaka Horie, D. Montgomery Bissell, Karl E. Anderson, Amy Chan, Pauline Harper, Herbert L. Bonkovsky, Sioban Keel, Jeeyoung Oh, Paolo Ventura, Gary Liu, Janneke G. Langendonk, Amy Simon, Jiaan-Der Wang, Samuel M. Silver, Gayle Ross, Jerzy Windyga, Charles J. Parker, Laurent Gouya, Manisha Balwani, Aneta Ivanova, Quinn Dinh, Peter Stewart, John D. Phillips, David C. Rees, Bruce Ritchie, Ulrich Stölzel, Eliane Sardh, Penelope E. Stein
Publikováno v:
Journal of Hepatology. 70:e81-e82
Autor:
Penelope E. Stein, Eliane Sardh, David C. Rees, Laurent Gouya, D. Bissel, John D. Phillips, R. Desnick, Jean Charles Deybach
Publikováno v:
La Revue de Médecine Interne. 39:A141-A142
Introduction Les porphyries hepatiques aigues sont des maladies genetiques rares, souvent mal diagnostiquees, provoquees par une mutation de l’une des enzymes de la biosynthese de l’heme. Cela se traduit par l’accumulation de precurseurs neurot