Results 11 to 20 of about 7,602 (197)

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

Pediatr Transplant
ABSTRACT Background Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disorder that leads to systemic oxalosis and end‐stage renal disease (ESRD). Before the advent of siRNA therapy, liver transplantation, often combined with kidney transplantation, was the only definitive treatment.
Finer G, Darani AN, Switalski MG, Ward SE, Melin-Aldana H, Superina R.   +5 more
europepmc   +2 more sources

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

Clin Transl Med
The base editor precisely corrected the Agxt gene with high efficiency in PH1 rats. LNP‐delivered ABE normalised urinary oxalate levels and prevented calculus formation. This study identified the minimal Agxt correction efficiency required for urinary oxalate normalisation.
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   +2 more sources

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

J Inherit Metab Dis
ABSTRACT Our research aimed to model primary hyperoxaluria type 1 in vitro using a stem cell model and assess the potential of adenine base editors in correcting the most common pathogenic AGXT genetic variant, c.508G>A (Gly170Arg), which leads to oxalate accumulation due to alanine‐glyoxylate aminotransferase mislocalization.
Keskinen T, Jalil S, Gümüşoğlu I, Juutila J, Kestilä N, Kuuluvainen E, Hietakangas V, Balboa D, Wartiovaara K, Hyvönen ME.   +9 more
europepmc   +2 more sources

The primary hyperoxalurias [PDF]

Kidney International, 2009
The primary hyperoxalurias (PHs) are rare disorders of glyoxylate metabolism in which specific hepatic enzyme deficiencies result in overproduction of oxalate. Due to the resulting severe hyperoxaluria, recurrent urolithiasis or progressive nephrocalcinosis are principal manifestations.
Hoppe, Bernd, Beck, Bodo B., Milliner, Dawn S.   +2 more
openaire   +2 more sources

Cardiac involvement of primary hyperoxaluria accompanied by non-compaction cardiomyopathy and patent ductus arteriosus

Türk Kardiyoloji Derneği Arşivi, 2015
Primary hyperoxaluria is a rare hereditary metabolic disorder resulting in accumulation of calcium oxalate in visceral organs, including the heart. We report a 19-year-old male with non- compaction cardiomyopathy combined with patent ductus arteriosus ...
Nurcan Arat, Murat Akyıldız, Gürkan Tellioğlu, Yaman Tokat   +3 more
doaj   +1 more source

Purslane-induced oxalate nephropathy: case report and literature review

BMC Nephrology, 2023
Background The kidney is particularly vulnerable to toxins due to its abundant blood supply, active tubular reabsorption, and medullary interstitial concentration.
Xiangtuo Wang, Xiaoyan Zhang, Liyuan Wang, Ruiying Zhang, Yingxuan Zhang, Lei Cao   +5 more
doaj   +1 more source

Functional Eubacteria Species Along with Trans-domain Gut Inhabitants Favour Dysgenic Diversity in Oxalate Stone Disease [PDF]

, 2018
Analyses across all three domains of life are necessary to advance our understanding of taxonomic dysbiosis in human diseases. In the present study, we assessed gut microbiota (eubacteria, archaea, and eukaryotes) of recurrent oxalate kidney stone ...
Bhute, Shrikant S., Gune, Rahul P., Shouche, Yogesh S., Suryavanshi, Mangesh V.   +3 more
core   +3 more sources

Influence of nutrition on feline calcium oxalate urolithiasis with emphasis on endogenous oxalate synthesis [PDF]

, 2011
The prevalence of calcium oxalate (CaOx) uroliths detected in cats with lower urinary tract disease has shown a sharp increase over the last decades with a concomitant reciprocal decrease in the occurrence of struvite (magnesium ammonium phosphate ...
Baal, J., van, Dijcker, J.C., Hendriks, W.H., Plantinga, E.A.   +3 more
core   +2 more sources

Compliance in patients with dietary hyperoxaluria: A cohort study and systematic review

Asian Journal of Urology, 2019
Objective: Hyperoxaluria leads to calcium oxalate crystal formation and subsequent urolithiasis. This study aims to analyse the effect of treatment compliance in hyperoxaluria, firstly by analysis of patients with non-primary hyperoxaluria and secondly ...
Derek B. Hennessey, Ned Kinnear, Gilbert Rice, David Curry, Siobhan Woolsey, Brian Duggan   +5 more
doaj   +1 more source

Late onset primary hyperoxaluria after kidney transplantation in a 36-year-old woman [PDF]

Journal of Nephropathology
Primary hyperoxaluria is a rare congenital autosomal recessive disorder disrupting the glyoxylate metabolism pathway in the liver. Type1 primary hyperoxaluria is caused by a deficiency in a specific liver enzyme namely, alanine glyoxylate ...
Amirhesam Alirezaei, Hamed Ebrahimibagha, Mahmoud Parvin, Majid Ali Asgari, Leyla Bagheri   +4 more
doaj   +1 more source