-
1دورية أكاديمية
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
-
2دورية أكاديمية
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
-
3دورية 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
-
4دورية أكاديمية
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
-
5دورية أكاديمية
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
-
6دورية أكاديمية
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
-
7دورية أكاديمية
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
-
8دورية أكاديمية
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
-
9
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
المساهمون: Paediatric Nephrology, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Reproduction & Development (AR&D), Graduate School, APH - Methodology, APH - Quality of Care
المصدر: Kidney International Reports, 7(3), 494-506. Elsevier Inc.
مصطلحات موضوعية: urinary oxalate, RNA interference, phase 3 clinical trial, Nephrology, primary hyperoxaluria type 1, nephrocalcinosis, lumasiran
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::088cfad4b256f553fdbff4f4d03d3b5fTest
https://pubmed.ncbi.nlm.nih.gov/35257062Test -
10
المؤلفون: Manish Thapar, Herbert L. Bonkovsky, Susana Monroy, Gayle Ross, Encarna Guillén-Navarro, Maria Domenica Cappellini, Anna-Elisabeth Minder, Shangbin Liu, Marianne T. Sweetser, David J. Kuter
المصدر: Gastroenterology. 162:S-80
مصطلحات موضوعية: Hepatology, Gastroenterology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3d90a07dcc2976494309ae01c3ab35caTest
https://doi.org/10.1016/s0016-5085Test(22)60206-3