Results 61 to 70 of about 4,024 (132)

LNP-mediated in vivo base editing corrects Agxt to cure primary hyperoxaluria type 1. [PDF]

Clin Transl Med
Zhang D, Zheng R, Chen Z, Chen X, Yang L, Huo Y, Zhao Y, Huang J, Zhang D, Yin S, Li D, Geng H.   +11 more
europepmc   +1 more source

Primary hyperoxaluria

Indian Journal of Pathology and Microbiology, 2021
Sudip Roy, Uttara Chatterjee, Moumita Sengupta, Suchandra Ray   +3 more
openaire   +1 more source

Surgical Management of Pediatric Primary Hyperoxaluria Type 1: An Eight-Patient Case Series in the Pre-siRNA Era. [PDF]

Pediatr Transplant
Finer G, Darani AN, Switalski MG, Ward SE, Melin-Aldana H, Superina R.   +5 more
europepmc   +1 more source

Genetic Correction of the Most Common Mutation Causing Primary Hyperoxaluria Restores Enzyme Localization and Oxalate Metabolism. [PDF]

J Inherit Metab Dis
Keskinen T, Jalil S, Gümüşoğlu I, Juutila J, Kestilä N, Kuuluvainen E, Hietakangas V, Balboa D, Wartiovaara K, Hyvönen ME.   +9 more
europepmc   +1 more source

The Dawn of Precision Medicine in Pediatric Nephrology: Lumasiran and the Era of siRNA Therapies for Primary Hyperoxaluria Type 1. [PDF]

J Pers Med
Dotis J, Fourikou M.
europepmc   +1 more source

Natural History of Advanced Primary Hyperoxaluria Type 1: A Retrospective Study. [PDF]

Kidney Med
Lieske JC, Groothoff JW, Frishberg Y, Garrelfs SF, Milliner DS, Magen D, Sellier-Leclerc AL, Shasha-Lavsky H, Bakkaloǧlu S, Lemoine S, Fuster DG, Devresse A, Cytter-Kuint R, Kajbaf F, Du W, Gansner JM.   +15 more
europepmc   +1 more source

Real-world burden of primary hyperoxaluria with chronic kidney disease in the United States: a retrospective administrative claims analysis. [PDF]

BMC Nephrol
Goldfarb DS, Modersitzki F, Skaar JR, Li O, Salem S, Chen JV.   +5 more
europepmc   +1 more source

Primary hyperoxaluria: insights into its clinical presentation, genetic mutations, and transplantation outcomes in a pediatric population in a tertiary care center. [PDF]

Orphanet J Rare Dis
Sayed B, Alhuthil R, Saadeh S, Al-Shareef T, Alhassoun I, Al-Sabban E.   +5 more
europepmc   +1 more source

Primary Hyperoxaluria Type 2 Masquerading as Chronic Kidney Disease of Unknown Origin in an Adolescent: A Case Report. [PDF]

Cureus
Garg M, Garg S, Mondal M, Acharya P, Garg L.   +4 more
europepmc   +1 more source

Controlled access to lumasiran in primary hyperoxaluria type 1: evaluation of a new access route for orphan drugs in the Netherlands. [PDF]

Nephrol Dial Transplant
Deesker LJ, Franssen CFM, Dorresteijn E, van de Kar NCAJ, Nurmohamed SA, Severs D, Garrelfs SF, Pisters-van Roy AAMG, Hollak CEM, Groothoff JW.   +9 more
europepmc   +1 more source