Zobrazeno 1 - 10
of 68
pro vyhledávání: '"Marianne T Sweetser"'
Autor:
Eliane Sardh, Manisha Balwani, David C. Rees, Karl E. Anderson, Gang Jia, Marianne T. Sweetser, Bruce Wang
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
Abstract Background Acute hepatic porphyria is a group of multisystem disorders of which acute intermittent porphyria is the most common subtype. Givosiran, a subcutaneously administered RNA interference therapeutic targeting liver ALAS mRNA, is appr
Externí odkaz:
https://doaj.org/article/759857acf82a4a949b1e43939d2fdb36
Autor:
Kon-Ping Lin, Chih-Chao Yang, Yi-Chung Lee, Ming-Jen Lee, John Vest, Marianne T. Sweetser, Matthew T. White, Prajakta Badri, Sung-Tsang Hsieh, Chi-Chao Chao
Publikováno v:
Journal of the Formosan Medical Association, Vol 123, Iss 9, Pp 975-984 (2024)
Background: To examine the efficacy and safety of patisiran, an RNA interference therapeutic, in patients from Taiwan with hereditary transthyretin-mediated (hATTR) amyloidosis with polyneuropathy. Methods: The APOLLO phase 3 trial included patients
Externí odkaz:
https://doaj.org/article/dab5699cac1045209b1a2938728fe680
Publikováno v:
JIMD Reports, Vol 65, Iss 4, Pp 262-271 (2024)
Abstract Givosiran is a subcutaneously administered, liver‐targeted RNA interference (RNAi) therapeutic that has been approved for treating acute hepatic porphyria (AHP). Elevation in plasma homocysteine (hyperhomocysteinemia) has been reported in
Externí odkaz:
https://doaj.org/article/bbd72c333fd44ced838ecb21916b0238
Publikováno v:
Journal of the Formosan Medical Association, Vol 123, Iss 6, Pp 679-686 (2024)
Background/purpose: Acute hepatic porphyrias (AHP) are rare genetic disorders associated with acute neurovisceral attacks and chronic symptoms. This analysis was conducted to examine the long-term efficacy and safety of givosiran in Taiwanese partici
Externí odkaz:
https://doaj.org/article/6b9f61050b21447189c634e505d495e5
Autor:
Bruce Wang, Paolo Ventura, Kei-ichiro Takase, Manish Thapar, David Cassiman, Ilja Kubisch, Shangbin Liu, Marianne T. Sweetser, Manisha Balwani
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Abstract Background Acute hepatic porphyria (AHP) is a family of four rare genetic diseases, each involving deficiency in a hepatic heme biosynthetic enzyme. Resultant overproduction of the neurotoxic intermediates δ-aminolevulinic acid (ALA) and po
Externí odkaz:
https://doaj.org/article/126628ee581049f09f0b982642040408
Autor:
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
Publikováno v:
Kidney International Reports, Vol 7, Iss 3, Pp 494-506 (2022)
Introduction: Primary hyperoxaluria type 1 (PH1) is a rare genetic disease caused by hepatic overproduction of oxalate, leading to kidney stones, nephrocalcinosis, kidney failure, and systemic oxalosis. In the 6-month double-blind period (DBP) of ILL
Externí odkaz:
https://doaj.org/article/d1c32da830c840358e1a339f45ee8a45
Autor:
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
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Abstract Background Patisiran, an RNA interference therapeutic, has demonstrated robust reduction of wild-type and mutant transthyretin protein and was able to improve polyneuropathy and quality of life following 18 months of treatment in patients wi
Externí odkaz:
https://doaj.org/article/043b3f0175b643a0af6f21c8079884d9
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:
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
One-year data from EXPLORE Part A showed high disease burden and impaired quality of life (QOL) in patients with acute hepatic porphyria (AHP) with recurrent attacks. We report baseline data of patients who enrolled in EXPLORE Part B for up to an add
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51ba88da64a03ddf281cdff0f121d88d
http://hdl.handle.net/10138/354211
http://hdl.handle.net/10138/354211
Autor:
Pushkal Garg, William O'Riordan, Sally A. Hulton, John C. Lieske, Jaap W. Groothoff, Eva Simkova, Hadas Shasha-Lavsky, Sander F. Garrelfs, Akshay Vaishnaw, Gesa Schalk, John M. Gansner, Kristin Meliambro, Pierre Cochat, Daniella Magen, Daniel Guido Fuster, Marianne T. Sweetser, William van’t Hoff, Jiandong Lu, Michael J. Koren, Yaacov Frishberg, Jeffrey M. Saland, Shabbir H. Moochhala, Georges Deschênes, Tracy L. McGregor, David J. Sas
Publikováno v:
New England journal of medicine, 384(13), 1216-1226. Massachussetts Medical Society
Background: Primary hyperoxaluria type 1 (PH1) is a rare genetic disease caused by hepatic overproduction of oxalate that leads to kidney stones, nephrocalcinosis, kidney failure, and systemic oxalosis. Lumasiran, an investigational RNA interference