Zobrazeno 1 - 10
of 790
pro vyhledávání: '"Hepatic porphyria"'
Publikováno v:
Turkish Archives of Pediatrics. Jan2023, Vol. 58 Issue 1, p3-9. 7p.
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
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
Akademický článek
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Autor:
Claudio Carmine Guida, Maria Nardella, Aurora del Mar YS Perez, Maria Savino, Gaetano Ferrara, Francesco Napolitano, Annalisa Crisetti, Francesco Aucella, Filippo Aucella
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101111- (2024)
Acute hepatic porphyrias (AHPs) are a family of rare, autosomal, dominantly inherited conditions characterized by abnormalities in the production of heme. Advances in molecular engineering have provided new therapeutic possibilities for modifying the
Externí odkaz:
https://doaj.org/article/9d9052a1050d40ac9f42682858fc1336
Autor:
Isabelle Redonnet-Vernhet, Patrick Mercié, Louis Lebreton, Jean-Marc Blouin, Didier Bronnimann, Samir Mesli, Claire Guibet, Emmanuel Ribeiro, Noémie Gensous, Pierre Duffau, Laurent Gouya, Emmanuel Richard
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101076- (2024)
Acute hepatic porphyrias are inherited metabolic disorders of heme biosynthesis characterized by the accumulation of toxic intermediate metabolites responsible for disabling acute neurovisceral attacks. Givosiran is a newly approved siRNA-based treat
Externí odkaz:
https://doaj.org/article/3f6cf5bab6a04cf087bfd971ca90b02d
Autor:
Paulo Sgobbi, Paulo de Lima Serrano, Bruno de Mattos Lombardi Badia, Igor Braga Farias, Hélvia Bertoldo de Oliveira, Alana Strucker Barbosa, Camila Alves Pereira, Vanessa de Freitas Moreira, Ícaro França Navarro Pinto, Acary Souza Bulle Oliveira, Wladimir Bocca Vieira de Rezende Pinto
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
BackgroundAcute hepatic porphyrias (AHP) represent a rare group of inherited metabolic disorders of heme biosynthesis pathway. This study aims to determine the diagnostic and prognostic value of serum neurofilament light chain (NfL) as potential biom
Externí odkaz:
https://doaj.org/article/33e19679dfe04101aeedd133779ded9c
Publikováno v:
Modern Medicine, Vol 30, Iss 1, Pp 13-16 (2023)
Acute Hepatic Porphyria (AHP) is an uncommon and hereditary illness that belongs to a group of disorders known as porphyries. This condition results from a deficiency of the porphobilinogen deaminase enzyme, which plays a role in heme production, a c
Externí odkaz:
https://doaj.org/article/9b248da9900d4de7af0469c7a5e9666e
Autor:
Paulo Victor Sgobbi Souza, Gliciane Afonso, Wladimir Bocca Vieira de Rezende Pinto, Paulo de Lima Serrano, Bruno de Mattos Lombardi Badia, Igor Braga Farias, Ana Carolina dos Santos Jorge, Roberta Ismael Lacerda Machado, Icaro França Navarro Pinto, Glenda Barbosa Barros, Helvia Bertoldo de Oliveira, Samia Rogatis Calil, Cibele Franz, Acary Souza Bulle Oliveira
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)
Abstract Background Porphyrias are a rare group of disease due to inherited defects of heme synthesis with important systemic manifestations and great burden of disease for patients and families due to the exceptional course of disease with disabling
Externí odkaz:
https://doaj.org/article/e991abfc8f334db599cba5bf626ab962
Autor:
Amy Dickey, Kristen Wheeden, Desiree Lyon, Sue Burrell, Sean Hegarty, Rocco Falchetto, Edrin R. Williams, Jasmin Barman‐Aksözen, Marc DeCongelio, Alison Bulkley, Joana E. Matos, Tarek Mnif, Jordanna Mora, John J. Ko, Stephen Meninger, Stephen Lombardelli, Danielle Nance
Publikováno v:
JIMD Reports, Vol 64, Iss 1, Pp 104-113 (2023)
Abstract Acute hepatic porphyria (AHP) is a group of rare genetic diseases of heme biosynthesis resulting in severe neurovisceral attacks and chronic complications that negatively impact patients' well‐being. This study evaluated the impacts of AHP
Externí odkaz:
https://doaj.org/article/887c80c7c03843749b79f3357324015a