المؤلفون: Mark A. Keibler, Gautham V. Sridharan, Marianne T. Sweetser, Simina Ticau

المصدر: JIMD Reports, Vol 65, Iss 4, Pp 262-271 (2024)

مصطلحات موضوعية: Acute hepatic porphyria (AHP), cystathionine β‐synthase (CBS), givosiran, homocysteine, hyperhomocysteinemia, liquid chromatography‐mass spectrometry (LC–MS), Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2192-8312Test

الوصول الحر: https://doaj.org/article/bbd72c333fd44ced838ecb21916b0238Test

المؤلفون: Ming-Jen Lee, Hung-Chou Kuo, Lin-Na Chou, Marianne T. Sweetser, Jiaan-Der Wang

المصدر: Journal of the Formosan Medical Association, Vol 123, Iss 6, Pp 679-686 (2024)

مصطلحات موضوعية: Aminolevulinic acid, Givosiran, Porphobilinogen, Porphyrias, Taiwan, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S0929664623004345Test; https://doaj.org/toc/0929-6646Test

الوصول الحر: https://doaj.org/article/6b9f61050b21447189c634e505d495e5Test

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

الوصول الحر: https://doaj.org/article/126628ee581049f09f0b982642040408Test

المؤلفون: Sally A. Hulton, Jaap W. Groothoff, Yaacov Frishberg, Michael J. Koren, J. Scott Overcash, Anne-Laure Sellier-Leclerc, Hadas Shasha-Lavsky, Jeffrey M. Saland, Wesley Hayes, Daniella Magen, Shabbir H. Moochhala, Martin Coenen, Eva Simkova, Sander F. Garrelfs, David J. Sas, Kristin A. Meliambro, Taylor Ngo, Marianne T. Sweetser, Bahru A. Habtemariam, John M. Gansner, Tracy L. McGregor, John C. Lieske

المصدر: Kidney International Reports, Vol 7, Iss 3, Pp 494-506 (2022)

مصطلحات موضوعية: lumasiran, nephrocalcinosis, phase 3 clinical trial, primary hyperoxaluria type 1, RNA interference, urinary oxalate, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2468024921015916Test; https://doaj.org/toc/2468-0249Test

الوصول الحر: https://doaj.org/article/d1c32da830c840358e1a339f45ee8a45Test

المؤلفون: David J. Kuter, Herbert L. Bonkovsky, Susana Monroy, Gayle Ross, Encarna Guillén-Navarro, Maria Domenica Cappellini, Anna-Elisabeth Minder, Ole Hother-Nielsen, Paolo Ventura, Gang Jia, Marianne T. Sweetser, Manish Thapar

المساهمون: Kuter, David J., Bonkovsky, Herbert L., Monroy, Susana, Ross, Gayle, Guillén-Navarro, Encarna, Cappellini, MARIA DOMENICA, Minder, Anna-Elisabeth, Hother-Nielsen, Ole, Ventura, Paolo, Jia, Gang, Sweetser, Marianne T., Thapar, Manish

مصطلحات موضوعية: acute intermittent porphyria, health-related quality of life, opioid

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37479139; info:eu-repo/semantics/altIdentifier/wos/WOS:001109619300001; volume:79; issue:5; firstpage:1150; lastpage:1158; journal:JOURNAL OF HEPATOLOGY; https://hdl.handle.net/11380/1311507Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85169505493

الإتاحة: https://doi.org/10.1016/j.jhep.2023.06.013Test
https://hdl.handle.net/11380/1311507Test

المؤلفون: Paolo Ventura, Eliane Sardh, Nicola Longo, Manisha Balwani, Jorge Plutzky, Laurent Gouya, John Phillips, Sean Rhyee, Mary-Jean Fanelli, Marianne T. Sweetser, Petro E. Petrides

المساهمون: Ventura, Paolo, Sardh, Eliane, Longo, Nicola, Balwani, Manisha, Plutzky, Jorge, Gouya, Laurent, Phillips, John, Rhyee, Sean, Fanelli, Mary-Jean, Sweetser, Marianne T., Petrides, Petro E.

مصطلحات موضوعية: Acute Hepatic Porphyria (AHP), Acute Intermittent Porprhyria (AIP), givosiran, homocysteine,hyperhomocysteinemia, small interfering RNA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35929959; info:eu-repo/semantics/altIdentifier/wos/WOS:000844715400001; volume:16; issue:9; firstpage:879; lastpage:894; journal:EXPERT REVIEW OF GASTROENTEROLOGY & HEPATOLOGY; http://hdl.handle.net/11380/1286364Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85136639107

الإتاحة: https://doi.org/10.1080/17474124.2022.2110469Test
http://hdl.handle.net/11380/1286364Test

المؤلفون: Teresa Coelho, David Adams, Isabel Conceição, Márcia Waddington-Cruz, Hartmut H. Schmidt, Juan Buades, Josep Campistol, John L. Berk, Michael Polydefkis, Jing Jing Wang, Jihong Chen, Marianne T. Sweetser, Jared Gollob, Ole B. Suhr

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)

مصطلحات موضوعية: ATTR amyloidosis, Cardiomyopathy, Patisiran, Polyneuropathy, RNA interference, Medicine

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13023-020-01399-4Test; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/043b3f0175b643a0af6f21c8079884d9Test

المؤلفون: Paolo Ventura, Herbert L. Bonkovsky, Laurent Gouya, Paula Aguilera-Peiró, D. Montgomery Bissell, Penelope E. Stein, Manisha Balwani, D. Karl E. Anderson, Charles Parker, David J. Kuter, Susana Monroy, Jeeyoung Oh, Bruce Ritchie, John J. Ko, Zhaowei Hua, Marianne T. Sweetser, Eliane Sardh

المساهمون: Ventura, Paolo, Bonkovsky, Herbert L., Gouya, Laurent, Aguilera-Peiró, Paula, Montgomery Bissell, D., Stein, Penelope E., Balwani, Manisha, Anderson, D. Karl E., Parker, Charle, Kuter, David J., Monroy, Susana, Oh, Jeeyoung, Ritchie, Bruce, Ko, John J., Hua, Zhaowei, Sweetser, Marianne T., Sardh, Eliane

مصطلحات موضوعية: Acute Hepatic Porprhyria, ALA-synthase-1, givosiran, health-related quality of life, RNAi therapeutics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34717041; info:eu-repo/semantics/altIdentifier/wos/WOS:000718809000001; volume:42; firstpage:161; lastpage:172; journal:LIVER INTERNATIONAL; http://hdl.handle.net/11380/1255839Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85119075466

الإتاحة: https://doi.org/10.1111/liv.15090Test
http://hdl.handle.net/11380/1255839Test

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

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