Zobrazeno 1 - 10
of 108
pro vyhledávání: '"lumasiran"'
Autor:
Yaacov Frishberg, Wesley Hayes, Hadas Shasha-Lavsky, David J. Sas, Mini Michael, Anne-Laure Sellier-Leclerc, Julien Hogan, Richard Willey, John M. Gansner, Daniella Magen
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
BackgroundPrimary hyperoxaluria type 1 (PH1) is a genetic disorder resulting in overproduction of hepatic oxalate, potentially leading to recurrent kidney stones, nephrocalcinosis, chronic kidney disease, and kidney failure. Lumasiran, the first RNA
Externí odkaz:
https://doaj.org/article/22831d3639fc447396b0f620921112a5
Publikováno v:
Case Reports in Nephrology and Dialysis, Vol 13, Iss 1, Pp 63-69 (2023)
The primary hyperoxalurias (PHs) are a group of diseases characterized by kidney stones, nephrocalcinosis, and chronic kidney disease. At stages of advanced kidney disease, glomerular filtration of oxalate becomes insufficient, plasma levels increase
Externí odkaz:
https://doaj.org/article/5b62c518fe924787a2a922063d4e605a
Autor:
Francesca Taroni, Alfredo Berrettini, Michele Gnech, Francesca Rella, Gian Antonio Manzoni, Giovanni Montini
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2024)
BackgroundPrimary hyperoxaluria type 1 (PH1) is a rare disease with autosomal recessive transmission, characterized by increased urinary excretion of oxalate, resulting in chronic kidney disease secondary to recurrent urolithiasis, nephrocalcinosis,
Externí odkaz:
https://doaj.org/article/b60b82a18ba348e59802e61edf7a0740
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
Incidence and prevalence of urolithiasis is apparently increasing worldwide, also among children and adolescents. Nevertheless, robust data have only been obtained in a few countries. In Spain, a voluntary Registry for Pediatric Renal Lithiasis has b
Externí odkaz:
https://doaj.org/article/4d1a7831f3254b0bb9f15a59269c9200
Publikováno v:
Pharmacy, Vol 12, Iss 2, p 58 (2024)
Small interfering RNA (siRNA)-based medications offer the ability to target previously undruggable targets and have now received FDA approval in five instances for orphan or uncommon diseases. The current siRNA “-sirans” are directed towards hepa
Externí odkaz:
https://doaj.org/article/303799104901456da75f2b62acf399b1
Akademický článek
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Autor:
D'Ambrosio V, Ferraro PM
Publikováno v:
International Journal of Nephrology and Renovascular Disease, Vol Volume 15, Pp 197-206 (2022)
Viola D’Ambrosio,1,2 Pietro Manuel Ferraro1,2 1U.O.S. Terapia Conservativa della Malattia Renale Cronica, U.O.C. Nefrologia, Dipartimento di Scienze Mediche e Chirurgiche, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italia; 2Dipart
Externí odkaz:
https://doaj.org/article/9b1821a9dbc644fa9584285a317f14b0
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
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2023)
Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive genetic disorder caused by mutations in the AGXT gene. The hepatic peroxisomal enzyme alanine glyoxylate aminotransferase (AGT) defects encoded by the AGXT gene increase oxalate product
Externí odkaz:
https://doaj.org/article/820624325d9d4594aaaeaa8cb690202c
Akademický článek
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