Results 11 to 20 of about 9,955 (227)
Primary Hyperoxaluria Type 1: The First Patient Treated with Lumasiran in Portugal
Primary hyperoxaluria type 1 is a rare genetic disease caused by mutations in AGXT, leading to an excessive hepatic production of oxalate, resulting in urolithiasis, nephrocalcinosis and chronic kidney disease.
Madalena Almeida Borges +5 more
doaj +1 more source
Postbiotics and Kidney Disease
Chronic kidney disease (CKD) is projected to become the fifth global cause of death by 2040 as a result of key shortcomings in the current methods available to diagnose and treat kidney diseases.
Chiara Favero +5 more
doaj +1 more source
IntroductionCombined or sequential liver and kidney transplantation (CLKT/SLKT) restores kidney function and corrects the underlying metabolic defect in children with end-stage kidney disease in primary hyperoxaluria type 1 (PH1).
Sebastian Loos +12 more
doaj +1 more source
Current update and future directions on gut microbiome and nephrolithiasis
The incidence of nephrolithiasis is increasing worldwide. Understanding how gut microbiome influences oxalate homeostasis has the potential to offer new strategies to prevent nephrolithiasis.
Ajay P Sharma +3 more
doaj +1 more source
Obesity and kidney stone disease. A systematic review [PDF]
INTRODUCTION: Currently, abdominal obesity has reached an epidemic stage and obesity represents an important challenge for worldwide health authorities. Epidemiologic studies have demonstrated that the stone risk incidence increases with Body Mass Index,
AL SALHI, Yazan +8 more
core +1 more source
Primary hyperoxalurias (PH) are inborn errors in the metabolism of glyoxylate and oxalate. PH type 1, the most common form, is an autosomal recessive disorder caused by a deficiency of the liver-specific enzyme alanine, glyoxylate aminotransferase (AGT) resulting in overproduction and excessive urinary excretion of oxalate.
Jérôme Harambat +4 more
openaire +3 more sources
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 +3 more
doaj +1 more source
Chemical Chaperones Improve Protein Secretion and Rescue Mutant Factor VIII in Mice with Hemophilia A. [PDF]
nefficient intracellular protein trafficking is a critical issue in the pathogenesis of a variety of diseases and in recombinant protein production.
Abriss, Daniela +9 more
core +2 more sources
Transplantation for renal failure secondary to enteric hyperoxaluria: a case report
Enteric hyperoxaluria can lead to renal failure. There have only been a few reports of renal transplantation as treatment of endstage renal disease secondary to enteric hyperoxaluria and results have been mixed. This report describes a patient with Crohn'
Rifkin Stephen I
doaj +1 more source
Functional Eubacteria Species Along with Trans-domain Gut Inhabitants Favour Dysgenic Diversity in Oxalate Stone Disease [PDF]
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. +3 more
core +3 more sources

