Zobrazeno 1 - 10 of 24 pro vyhledávání: '"Sean Rudnick"'
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Akademický článek
Benefits of prophylactic heme therapy in severe acute intermittent porphyria
Autor: Pradeep Yarra, Denise Faust, Mary Bennett, Sean Rudnick, Herbert L. Bonkovsky
Publikováno v: Molecular Genetics and Metabolism Reports, Vol 19, Iss , Pp - (2019)
Acute intermittent porphyria (AIP), an autosomal dominant inborn error of metabolism, is the most common and severe form of the acute porphyrias. Attacks of severe abdominal pain, often with hypertension, tachycardia, are cardinal features of AIP, of
Externí odkaz: https://doaj.org/article/20db557508164f51b56d08f61613645d
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2
Spotlight on Givosiran as a Treatment Option for Adults with Acute Hepatic Porphyria: Design, Development, and Place in Therapy
Autor: Chaudry Nasir Majeed, Christopher D Ma, Ted Xiao, Sean Rudnick, Herbert L Bonkovsky
Publikováno v: Drug Design, Development and Therapy. 16:1827-1845
Small interfering ribonucleic acids [siRNAs] are short ribonucleic acid (RNA) fragments cleaved from double-stranded RNA molecules that target and bind to specific sequences on messenger RNA (mRNA), leading to their destruction. Therefore, the siRNA
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be1f509754ec7ac4059c5734567e28b1
https://doi.org/10.2147/dddt.s281631
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3
Givosiran, a novel treatment for acute hepatic porphyrias
Autor: Herbert L. Bonkovsky, Sean Rudnick, Manish Thapar
Publikováno v: Expert Review of Precision Medicine and Drug Development. 6:9-18
Acute hepatic porphyrias (AHPs) are a group of rare genetic disorders that affect the enzymes of the heme biosynthetic pathway. Patients have a varied presentation, but attacks of severe abdominal ...
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7ab87bbf65d7c88cc18e90eddff2a7b6
https://doi.org/10.1080/23808993.2021.1838275
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9
Pilot study of mitochondrial bioenergetics in subjects with acute porphyrias
Autor: Brandon Marion, Anthony J.A. Molina, Sean Rudnick, Stephen Dozier, Natalia Dixon, Ting Li, Herbert L. Bonkovsky, Denise Faust
Publikováno v: Mol Genet Metab
Molecular genetics and metabolism, vol 128, iss 3
Background and aims The acute porphyrias are characterized by defects in heme synthesis, particularly in the liver. In some affected patients, there occurs a critical deficiency in a regulatory heme pool within hepatocytes that leads to up-regulation
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::898292c27e2ebef3cbddf62bbb8a4f98
https://pubmed.ncbi.nlm.nih.gov/31153822
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10
Acute Hepatic Porphyrias: Review and Recent Progress
Autor: Sean Rudnick, Bruce Wang, Herbert L. Bonkovsky, Brent T. Cengia
Publikováno v: Hepatology communications, vol 3, iss 2
Hepatology Communications
The acute hepatic porphyrias (AHPs) are a group of four inherited diseases of heme biosynthesis that present with episodic, acute neurovisceral symptoms. The four types are 5-aminolevulinic acid (ALA) dehydratase deficiency porphyria, acute intermitt
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b38395f10ef59f1496679fc9be9c5bfc
https://escholarship.org/uc/item/05d3v5z5
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