Results 91 to 100 of about 4,438 (134)

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

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

Type 1 primary hyperoxaluria in a male infant

Kidney Research and Clinical Practice, 2017
Benjamin Waddell, Daniel McKenney
doaj   +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

Effect of the allelic background on the phenotype of primary hyperoxaluria type I. [PDF]

Curr Opin Nephrol Hypertens
Mandrile G, Cellini B, Ferraro PM.
europepmc   +1 more source

Targeting Oxalate Production by Combining Enzyme Inhibition and Proteolysis Activation: A Novel Therapeutic Approach for Primary Hyperoxaluria Type 1. [PDF]

J Med Chem
Arias F, Rohilla S, Sixto-López Y, Richard KSE, Das S, Anand SK, Luque-Navarro PM, Bañuelos-Sanchez G, Pacheco-García JL, Gade R, McKinney MP, Kumar D, Maxie J, Corr WR, Pandey N, Kaur H, Ding J, Tan L, Scott E, Nam H, Gottlieb E, Orr AW, Dhanesha N, Yurdagul A, Pey AL, Franco-Montalbán F, Gómez Vidal JA, Rom O, Díaz-Gavilán M.   +28 more
europepmc   +1 more source

Lumasiran at birth changes the trajectory of primary hyperoxaluria type 1: same disease, different outcomes in two affected siblings. [PDF]

J Nephrol
Peruzzi L, Leporati M, Pediatric Oxal Turin Working Group.   +2 more
europepmc   +1 more source

A Minor Haplotype Variant Determines the Pathogenicity of the p.Ile279Thr Substitution in the Primary Hyperoxaluria Type 1 Gene, AGXT. [PDF]

J Inherit Metab Dis
Ruta L, Cogal AG, Pampalone G, Sas DJ, Lieske JC, Rumsby G, Cellini B, Harris PC.   +7 more
europepmc   +1 more source