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1دورية أكاديمية
المؤلفون: Bruce Wang, Paolo Ventura, Kei-ichiro Takase, Manish Thapar, David Cassiman, Ilja Kubisch, Shangbin Liu, Marianne T. Sweetser, Manisha Balwani
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
مصطلحات موضوعية: Acute hepatic porphyria, Givosiran, Disease burden, Porphyria attack, Chronic symptoms, Quality of life, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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المؤلفون: David Cassiman, Raili Kauppinen, Susana Monroy, Ming‐Jen Lee, Herbert L. Bonkovsky, Manish Thapar, Encarna Guillén‐Navarro, Anna‐Elisabeth Minder, Cecilia Hale, Marianne T. Sweetser, Aneta Ivanova
المساهمون: HUS Internal Medicine and Rehabilitation, Clinicum, Department of Medicine, Helsinki University Hospital Area
مصطلحات موضوعية: COMPLICATIONS, QUESTIONNAIRE, Pain, hepatic complications, EORTC QLQ-C30, chronic symptoms, DIAGNOSIS, ACUTE INTERMITTENT PORPHYRIA, prospective studies, RECOMMENDATIONS, Porphyrias, Hepatic, disease burden, QUALITY-OF-LIFE, Porphyria, Acute Intermittent, 3121 General medicine, internal medicine and other clinical medicine, Genetics, Quality of Life, porphyria attack, MANAGEMENT, Humans, Hemin, VALIDITY, Genetics (clinical), ATTACKS, porphyrias
وصف الملف: Print-Electronic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51ba88da64a03ddf281cdff0f121d88dTest
http://hdl.handle.net/10138/354211Test -
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المؤلفون: 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
المصدر: Liver International. 42:161-172
مصطلحات موضوعية: medicine.medical_specialty, Acetylgalactosamine, Pyrrolidines, givosiran, Urinary system, Acute Hepatic Porprhyria, ALA-synthase-1, givosiran, health-related quality of life, RNAi therapeutics, Attack rate, Placebo, chemistry.chemical_compound, Quality of life, Internal medicine, Porphobilinogen, Humans, Medicine, Adverse effect, ALA-synthase-1, Hepatology, business.industry, Acute Hepatic Porprhyria, RNAi therapeutics, Interim analysis, Porphyrias, Hepatic, health-related quality of life, chemistry, Porphyria, Acute Intermittent, Quality of Life, business, Hemin
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6131b0c2b0931beff9480eb23921ff4eTest
https://doi.org/10.1111/liv.15090Test -
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المؤلفون: David Adams, Michael Polydefkis, Alejandra González-Duarte, Jonas Wixner, Arnt V Kristen, Hartmut H Schmidt, John L Berk, Inés Asunción Losada López, Angela Dispenzieri, Dianna Quan, Isabel M Conceição, Michel S Slama, Julian D Gillmore, Theodoros Kyriakides, Senda Ajroud-Driss, Márcia Waddington-Cruz, Michelle M Mezei, Violaine Planté-Bordeneuve, Shahram Attarian, Elizabeth Mauricio, Thomas H Brannagan, Mitsuharu Ueda, Emre Aldinc, Jing Jing Wang, Matthew T White, John Vest, Erhan Berber, Marianne T Sweetser, Teresa Coelho, Giuseppe Vita, Vincenzo Rizzo, Massimo Russo, Anna Mazzeo, Luca Gentile, Caitlin Brueckner, Victoria Lazzari, Janice Wiesman, Douglas DeLong, Jennifer Victory, James Dalton, John May, Catherine Gilmore, Saran Diallo, Emilien Delmont, Jean Pouget, Annie Verschueren, Aude-Marie Grapperon, Emmanuelle Campana-Salort, Ana Lopes, Filipa Lamas, Carlos Neves, Jose Castro, Pedro Pereira, Isabel Castro, Ana Franco, Miguel Oliveira Santos, Conceição de Azevedo Coutinho, Catarina Falcao de Campos, Antonio Hipólito Reis, Nuno Correia, Javier M Perez, Ana Martins da Silva, Cristina Alves, Marcio Cardoso, Katia Valdrez, Julia R Monte, Bernardete Pessoa, Nadia Guimaraes, Monica Freitas, Joana Ramalho, Natalia Ferreira, Daisuke Kuzume, Celine Tard, Nawal Waucquier, Isabelle Rougeaux, Sylvie Brice, Emmanuelle Kasprzyk, Elise Elrezzi, Sayah Meguig, Eric Hachulla, Clement Gauvain, Maria-Claire Migaud-Chervy, Dominique Deplanque, Elsa Jozefowicz, Loic Lebellec, Line Balaya-Gouraya, Nathalie Jehan Lacour, Halima Bournane, Nathalie Martin, Mongia Elabed, Niamey Sacko, Yasmine Boubrit, Amina Gaouar, Fetra Rakotondratafika, Marie Théaudin-Saliou, Cécile Cauquil-Michon, Celine Labeyrie, Adeline Not, Abdallah Al-Salameh, Anne-Lise Lecoq, Maeva Stephant, Andoni Echaniz-Laguna, Laurent Becquemont, Guillemette Beaudonnet, Vincent Algalarrondo, Ludivine Eliahou, Antoine Rousseau, Aissatou Signate, Emeline Berthelot, Jocelyn Inamo, Laetitia Vervoitte, Cecile Focseneanu, Thierry Gendre, Raphaele Arrouasse, Samar S. Ayache, Laura Ernande, Philippe Le Corvoisier, Hayet Salhi, Ariane Choumert, Vincent Ehinger, Julie Ruiz, Cyril Charlin, Thomas Megelin, Thomas H Brannagan III, Raisy Fayerman, Arreum Kim, Allan Paras, Leidy J Gonzalez, Steven Tsang, Fernanda Wajnsztajn, Jeffrey Shije, Christina Ulane, Inna Kleyman, Louis Weimer, Comana Cioroiu, Sakis Lambrianides, Rana Abu-Manneh, Eleni Zamba-Papanicolaou, Petros Agathangelou, Eleni Leonidou, Satoshi Tada, Akemi Fujita, Masahiro Nagai, Rina Ando, Yuko Hosokawa, Yuki Yamanishi, J. Scott Overcash, Elena Giardino, Leslie Boyer, Lien Dang, An Le, Tyler Nguyen, Lien Giang, Peter Sellers, Leyla Tran, Nghi Truong, Maita Vinas, Nicole Hrkman, Sarah Miller, David Nguyen, Ashley Smith, Helen Pu, Steve Li, Thao Vuong, Holly Dioso, Sinikka Green, Kia Lee, Hanh Chu, Michael Waters, Derya J Coskun, Karla A Zepeda, William O'Riordan, Laura Obici, Andrea Cortese, Alessandro Lozza, Giampaolo Merlini, Vittorio Rosti, Mario Sabatelli, Giulia Bisogni, Daniela Bernardo, Marco Luigetti, Andrea Di Paolantonio, Valeria Guglielmino, Angela Romano, Hans Nienhuis, Janita Bulthuis-Kuiper, Olga Gerk, Hannah Ulbricht, Lenka Taylor, Eva Meyle, Natalia Kleinschmidt, David Meyrath, Simone Noe-Schwenn, Ulrike Meng, Ralf Bauer, Fabian aus dem Siepen, Selina Hein, Tetsuya Takahashi, Tomohiko Oshita, Yoko Koujin, Shuichiro Neshige, Tomohisa Nezu, Akiko Segawa, Hiroki Ueno, Hiroyuki Morino, Josep M Campistol, Lida Maria Rodas Marin, Josep Miquel Blasco Pelicano, Lucía Galán Dávila, Marta Palacios, Vanesa Pytel Cordoba, Antonio Guerrero Sola, Alejandro Horga, Julián García Feijoo, Leopoldo Perez de Isla, Wilson Marques Júnior, Mariana Moscardini, Debora Cristina Litcanov, Ana Flavia Viera Lima, Leonardo Rodrigues, Barbara Marques Coutinho, Carolina Lavigne Moreira, Vanessa Daccach Marques, Francisco Munoz Beamud, Álvaro Gragera Martínez, Cristina Borrachero, Eugenia Cisneros Barroso, Adrián Rodríguez Rodríguez, Monica Sanz, Elena Rigo Oliver, Juan González Moreno, Jose M Gamez Martinez, Cristina Descals, Mercedes Uson, Francisco Jose Vega, Antoni Figuerola, Carles Montala, Moises Dias da Silva, Renata Gervais de Santa Rosa, Luiz Felipe Pinto, Marcus Vinicius Pinto, Amanda Cardoso Berensztejn, Fabio Barroso, Andrea Lautre, Lucas G Orellana, Maria Alejandra González-Duarte Briseño, Karla Cárdenas-Soto, Brenda Poled Jiménez López, Sandra Lorena Pérez-Castañeda, Carlos Gerardo Cantú Brito, David Rivera de la Parra, Jose Pablo Hernandez Reyes, Maria del Mar Saniger Alba, Elia Criollo Mora, Yesim Parman, Kus Jülide Rezzan, Erdi Sahin, Nail G Serbest, Hacer Durmus, Arman Cakar, Nuriye Ilknur Tugal Tutkun, Sacit Karamursel, Ali Elitok, Nermin G Sirin Inan, Emre Altinkurt, Jing Ye, Adriane C Allen, Vinay Chaudhry, Raquel Jarrett, Neil Bressler, Kathleen L Burks, Qingfeng Liu, Mohammad Khoshnoodi, Daniel P Judge, Geno Vista, Syed Mahmood Shah, Hirotoshi Hamaguchi, Junko Oda, Emi Fukase, Ikuko Taniguchi, Tetsuya Oda, Hironobu Endo, Masahiro Shimomura, Kimitaka Katanazaka, Shusuke Koto, Takahiro Nakano, Christof Scheid, Andreas Zueiter, Lars Pester, Doreen Walter, Betül Özdemir, Lukas F Frenzel, Udo Holtick, Jeeyoung Oh, Hee Jin Kim, Hyun Jin Shin, Kyomin Choi, Taro Yamashita, Teruaki Masuda, Yohei Misumi, Akihiko Ueda, Keiichi Nakahara, Akiko Yorita, Seiko Tsuruhisa, Takayuki Taniwaki, Masaya Harada, Taiga Moritaka, Naonori Sakurada, Elizabeth A Mauricio, Amber Baskin, Elliot Dimberg, Amie Fonder, Miriam Hobbs, Stephen J Russell, Peter Dyck, Wilson Gonsalves, Nelson Leung, Thomas E Witzig, Steven R Zeldenrust, Lisa Hwa, Prashant Kapoor, Shaji K Kumar, Yi Lin, John A Lust, Vincent S Rajkumar, David Dingli, Morie A Gertz, Ronald Go, Suzanne R Hayman, Samir Dalia, Esmeralda Carrillo, Peter Gorevic, Garnette Mason, Chi-Chao Chao, Ming-Jen Lee, Jen-Jen Su, Sung-Tsang Hsieh, Li-Kai Tsai, Shin-Joe Yeh, Chih-Chao Yang, Senda Ajroud-Driss Ajroud-Driss, Patricia Casey, Benjamin C Joslin, Miriam Freimer, Alison Sankey, Amanda Kenepp, Sarah Heintzman, Samantha LoRusso, Youichi Hokezu, Byoung-Joon Kim, JuHyeon Kim, Ga Yeon Lee, Eun Bin Cho, Eun-Seok Jeon, Ju-Hong Min, Jin Myoung Seok, Hye Lim Lee, Jae Hong Park, Yoshiki Sekijima, Chinatsu Miyazawa, Nagaaki Kato, Dai Kishida, Akiyo Hineno, Minori Kodaira, Tsuneaki Yoshinaga, Teruyoshi Miyahara, Akira Imai, Kazuhiko Matsumoto, Kon-Ping Lin, Yi-Chung Lee, Malin Falk, Bjorn Pilebro, Ole Suhr, Per Lindqvist, Karin Soderberg, Fatima Pedrosa-Domellöf, Intissar Anan, Erik Nordh, Ivaylo Tournev, Sashka Zhelyazkova-Glaveeva, Zheyna Cherneva, Staiko Sarafov, Teodora Chamova, Sylvia Cherninkova-Gopina, Frauke Friebel, Andree Zibert, Natasa Mihailovic, Friederike Schubert, Elena Vorona, Larissa Lahme, Anna Huesing-Kabar, Matthias Schilling, Iyad Kabar, Ana Martinez-Naharro, Liza Chacko, Oliver Cohen, Steven Law, Tamer Rezk, Helen J Lachmann, Brianna Blume, Stacy Dixon, Soon Chai Low, Soo Looi Chan, He Eng Li Lim, Khean Jin Goh, Deborah Kraus, Kristin Jack, N. Kevin Wade, Glenn Lopate, Brittany Zwijack, Julaine Florence, R. Brian Sommerville, Graeme Stewart, Julie Ryder, Linda Mekhael, Mark Taylor, Daniel Suan, Karen Wells, Paula Stone, Amenze Itoya, Mercy Owusu-Sekyere, Desmond Thai, Ilonah Chahine, Salve Pedrosa, Thi Hoa (Therese) Do
المساهمون: Repositório da Universidade de Lisboa
المصدر: The Lancet Neurology. 20:49-59
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Drug-Related Side Effects and Adverse Reactions, 030204 cardiovascular system & hematology, Placebo, Severity of Illness Index, Polyneuropathies, 03 medical and health sciences, 0302 clinical medicine, Quality of life, Internal medicine, Outcome Assessment, Health Care, Severity of illness, medicine, Humans, Prealbumin, RNA, Small Interfering, Infusions, Intravenous, Adverse effect, Aged, Amyloid Neuropathies, Familial, business.industry, Middle Aged, medicine.disease, Interim analysis, amyloidosis, transthyretin, polyneuropathy, patisiran, OLE study, Clinical trial, Female, Neurology (clinical), business, Polyneuropathy, 030217 neurology & neurosurgery, Progressive disease
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce6a19ce91101df4f11e95eb6d009161Test
https://doi.org/10.1016/s1474-4422Test(20)30368-9 -
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المؤلفون: Isabel Conceição, Marianne T. Sweetser, Emre Aldinc, Céline Tard, Madeline Merkel, Márcia Waddington-Cruz, Dianna Quan, David Adams, Michael Polydefkis, John L. Berk, Jing Jing Wang, Teresa Coelho, Arnt V. Kristen, Alejandra González-Duarte, Mitsuharu Ueda, Jihong Chen, Cécile Cauquil, Michelle L. Mauermann, Hartmut Schmidt
المصدر: Journal of Neurology
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Hereditary transthyretin-mediated amyloidosis, Neurology, Orthostatic intolerance, Placebo, Transthyretin, Polyneuropathies, Double-Blind Method, Quality of life, Polyneuropathy, Internal medicine, medicine, Humans, RNA, Small Interfering, Small interfering ribonucleic acid (siRNA), Amyloid Neuropathies, Familial, Original Communication, business.industry, Amyloidosis, Correction, Autonomic nervous system diseases, Middle Aged, medicine.disease, RNAi Therapeutics, Blood pressure, Quality of Life, Patisiran, Female, Neurology (clinical), business, Body mass index
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a6304bdfba32573f7ed185e071e1e9fTest
https://doi.org/10.1007/s00415-019-09602-8Test -
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المؤلفون: Bruce Wang, Paolo Ventura, Kei-ichiro Takase, Manish Thapar, David Cassiman, Ilja Kubisch, Shangbin Liu, Marianne T. Sweetser, Manisha Balwani
المصدر: Orphanet Journal of Rare Diseases, vol 17, iss 1
مصطلحات موضوعية: Acute Porphyrias, Acute hepatic porphyria, Givosiran, Disease burden, Porphyria attack, Chronic symptoms, Quality of life, Porphobilinogen, Neurodegenerative, Research & Experimental Medicine, ACUTE INTERMITTENT PORPHYRIA, Hepatic, Cost of Illness, Envision, Pharmacology (medical), Genetics (clinical), Burden, Acute Porphyrias, Envision, Genetics & Heredity, Pain Research, PAIN, Hematology, Disease burden, General Medicine, LIVER-TRANSPLANTATION, Porphyria attack, Medicine, Research & Experimental, 6.1 Pharmaceuticals, Hemin, Chronic Pain, Life Sciences & Biomedicine, Quality of life, Clinical Trials and Supportive Activities, Pain, Burden, Porphyrias, Clinical Research, Acute hepatic porphyria, Genetics, MANAGEMENT, Humans, Peripheral Neuropathy, Givosiran, Other Medical and Health Sciences, Science & Technology, Porphyria, Chronic symptoms, Neurosciences, Evaluation of treatments and therapeutic interventions, Porphobilinogen Synthase, Acute Intermittent, Porphyrias, Hepatic, Porphyria, Acute Intermittent, Quality of Life, UPDATE, Digestive Diseases, ATTACKS
وصف الملف: Electronic; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3dcc4a34a20afd30da2fd2112dd67d6Test
https://hdl.handle.net/11380/1261337Test -
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المؤلفون: Marianne T. Sweetser, Márcia Waddington-Cruz, Josep M. Campistol, Hartmut Schmidt, John L. Berk, Jing Jing Wang, Jared Gollob, David H. Adams, Teresa Coelho, Juan Buades, Michael Polydefkis, Jihong Chen, Ole B. Suhr, Isabel Conceição
المساهمون: Repositório da Universidade de Lisboa
المصدر: Orphanet Journal of Rare Diseases
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)مصطلحات موضوعية: Tafamidis, medicine.medical_specialty, Neurologi, Cardiomyopathy, lcsh:Medicine, 030204 cardiovascular system & hematology, Gastroenterology, 03 medical and health sciences, chemistry.chemical_compound, RNA interference, 0302 clinical medicine, NA interference, Polyneuropathy, Internal medicine, medicine, Humans, Prealbumin, ATTR amyloidosis, Pharmacology (medical), RNA, Small Interfering, Adverse effect, Genetics (clinical), Amyloid Neuropathies, Familial, biology, business.industry, Research, Amyloidosis, lcsh:R, General Medicine, medicine.disease, Discontinuation, Transthyretin, Neurology, chemistry, Concomitant, Quality of Life, Patisiran, biology.protein, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ab76833c3c740a5a556579909bdfbdaTest
https://doi.org/10.1186/s13023-020-01399-4Test -
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المؤلفون: Taro Yamashita, Jaclyn Franklin, Laura Obici, Julian D. Gillmore, Thomas H. Brannagan, Alejandra González-Duarte, Jihong Chen, Marianne T. Sweetser, Matthias Schilling, Peter D. Gorevic, Jing Jing Wang, Céline Labeyrie, David Adams, Hartmut Schmidt, Arnt V. Kristen, Teresa Coelho, John L. Berk, Senda Ajroud-Driss
المصدر: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAPمصطلحات موضوعية: Oncology, Adult, Male, medicine.medical_specialty, patisiran, Adolescent, hereditary transthyretin-mediated amyloidosis, 030204 cardiovascular system & hematology, 03 medical and health sciences, Polyneuropathies, Young Adult, 0302 clinical medicine, Quality of life, RNA interference, Internal medicine, APOLLO, Internal Medicine, Medicine, Humans, Prealbumin, Norfolk QOL-DN, In patient, RNA, Small Interfering, Aged, Aged, 80 and over, Amyloid Neuropathies, Familial, biology, business.industry, Amyloidosis, Middle Aged, medicine.disease, Placebo Effect, humanities, Multisystem disease, Transthyretin, quality of life, Mutation, biology.protein, Quality of Life, Female, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02d16f0eb1c0040f9c7946c39acb5c5cTest
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المؤلفون: Hartmut Schmidt, Jeeyoung Oh, Yesim Parman, Teresa Coelho, Byoung Joon Kim, Akshay Vaishnaw, Ole B. Suhr, Chih-Chao Yang, Scott D. Solomon, Pushkal Garg, Sunita Goyal, Ivailo Tournev, Andrew Strahs, John L. Berk, Pritesh Gandhi, Shahram Attarian, Violaine Planté-Bordeneuve, Alejandra González-Duarte, Arnt V. Kristen, William O'Riordan, Kon Ping Lin, Mitsuharu Ueda, Philip N. Hawkins, Michelle M. Mezei, Jared Gollob, Jihong Chen, David Adams, Saraswathy V. Nochur, Thomas H. Brannagan, Peter J. Dyck, Josep M. Campistol, Giuseppe Vita, Marianne T. Sweetser, Michael Polydefkis, Yoshiki Sekijima, Juan Buades
المساهمون: Universitat de Barcelona
المصدر: Dipòsit Digital de la UB
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instnameمصطلحات موضوعية: Male, Tafamidis, Administration, Intravenous, Adult, Aged, Aged, 80 and over, Amyloid Neuropathies, Familial, Disease Progression, Double-Blind Method, Edema, Female, Gait Disorders, Neurologic, Humans, Infusions, Intravenous, Least-Squares Analysis, Middle Aged, Polyneuropathies, Prealbumin, Quality of Life, RNA, Small Interfering, Severity of Illness Index, Walk Test, RNAi Therapeutics, Medicine (all), 030204 cardiovascular system & hematology, chemistry.chemical_compound, 0302 clinical medicine, Clinical trials, RNA interference, biology, Amyloidosis, General Medicine, 03 medical and health sciences, medicine, business.industry, RNA, medicine.disease, Clinical trial, Transthyretin, chemistry, biology.protein, Cancer research, Amiloïdosi, Amyloid cardiomyopathy, business, human activities, 030217 neurology & neurosurgery, Assaigs clínics
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b94e90139b6836f8b7a776e1f046b770Test
http://hdl.handle.net/2445/138257Test