Results 91 to 100 of about 4,323 (173)

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

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

Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reported. [PDF]

Clin Kidney J
Mandrile G, Rumsby G, Sciannameo V, Cogal AG, Glover M, Lieske JC, Harris PC.   +6 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

Global access to management of primary hyperoxaluria: a survey on behalf of OxalEurope, G&K Working Group of the ERA and ESPN. [PDF]

Nephrol Dial Transplant
Deesker LJ, Oubram L, Almardini R, Baum MA, Bonilla-Felix M, Figueres L, Garrelfs SF, Groothoff JW, Ekulu PM, Müller RU, Oosterveld MJS, Qian S, Sayer JA, Soliman N, Moochhala SH, Bacchetta J.   +15 more
europepmc   +1 more source

Piperacillin Pharmacokinetics in a Pediatric Patient With Primary Hyperoxaluria Receiving High-Dose Continuous Dialysis Post Liver-Kidney Transplant. [PDF]

J Pediatr Pharmacol Ther
Hagenauer M, Pavia K, Paice K, Girdwood ST, Hambrick HR.   +4 more
europepmc   +1 more source

Treatment preferences among individuals with primary hyperoxaluria type 1 (PH1): a real-world study. [PDF]

Orphanet J Rare Dis
Goldfarb DS, Chen JV, Zincavage R, Padilla B, Sussman M, Salem S, Modersitzki F.   +6 more
europepmc   +1 more source