HOGA1 Gene Mutations of Primary Hyperoxaluria Type 3 in Tunisian Patients
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.22053
Abstract: Primary hyperoxaluria type 3 (PH3) is due to mutations in the recently identified 4‐hydroxy‐2‐oxoglutarate aldolase (HOGA1) gene. PH3 might be the least severe form with a milder phenotype with good preservation of kidney function in… read more here.
Keywords: gene mutations; primary hyperoxaluria; hyperoxaluria type; mutations primary ... See more keywords
Clinical analysis of 13 children with primary hyperoxaluria type 1
Sign Up to like & getrecommendations! Published in 2021 at "Urolithiasis"
DOI: 10.1007/s00240-021-01249-3
Abstract: A retrospective statistical analysis of primary hyperoxaluria type 1 (PH1) in children from June 2016 to May 2019 was carried out to discover its clinical and molecular biological characteristics. Patients were divided into two groups… read more here.
Keywords: renal failure; primary hyperoxaluria; analysis; infant type ... See more keywords
Skin microvascular dysfunction as an early cardiovascular marker in primary hyperoxaluria type I
Sign Up to like & getrecommendations! Published in 2018 at "Pediatric Nephrology"
DOI: 10.1007/s00467-018-4081-5
Abstract: BackgroundPrimary hyperoxaluria type 1 (PH1) is an orphan inborn error of oxalate metabolism leading to hyperoxaluria, progressive renal failure, oxalate deposition, and increased cardiovascular complications. As endothelial dysfunction and arterial stiffness are early markers of… read more here.
Keywords: dysfunction; ph1; ph1 cons; hyperoxaluria type ... See more keywords
Long-Term Transplantation Outcomes in Patients With Primary Hyperoxaluria Type 1 Included in the European Hyperoxaluria Consortium (OxalEurope) Registry
Sign Up to like & getrecommendations! Published in 2022 at "Kidney International Reports"
DOI: 10.1016/j.ekir.2021.11.006
Abstract: Introduction In primary hyperoxaluria type 1 (PH1), oxalate overproduction frequently causes kidney stones, nephrocalcinosis, and kidney failure. As PH1 is caused by a congenital liver enzyme defect, combined liver–kidney transplantation (CLKT) has been recommended in… read more here.
Keywords: transplantation; term transplantation; long term; hyperoxaluria type ... See more keywords
A report from the European Hyperoxaluria Consortium (OxalEurope) Registry on a large cohort of patients with primary hyperoxaluria type 3.
Sign Up to like & getrecommendations! Published in 2021 at "Kidney international"
DOI: 10.1016/j.kint.2021.03.031
Abstract: Outcome data in primary hyperoxaluria type 3 (PH3), described as a less severe form of the PH's with a low risk of chronic kidney disease, are scarce. To investigate this, we retrospectively analyzed the largest… read more here.
Keywords: ph1 ph2; primary hyperoxaluria; cohort; hyperoxaluria type ... See more keywords
Generation of an induced pluripotent stem cell line (CIMAi001-A) from a compound heterozygous Primary Hyperoxaluria Type I (PH1) patient carrying p.G170R and p.R122* mutations in the AGXT gene.
Sign Up to like & getrecommendations! Published in 2019 at "Stem cell research"
DOI: 10.1016/j.scr.2019.101626
Abstract: Primary Hyperoxaluria Type I (PH1) is a rare autosomal recessive metabolic disorder characterized by defects in enzymes involved in glyoxylate metabolism. PH1 is a life-threatening disease caused by the absence, deficiency or mistargeting of the… read more here.
Keywords: primary hyperoxaluria; line; stem cell; hyperoxaluria type ... See more keywords
Treatment options in primary hyperoxaluria Type I
Sign Up to like & getrecommendations! Published in 2017 at "Expert Opinion on Orphan Drugs"
DOI: 10.1080/21678707.2017.1298439
Abstract: ABSTRACT Introduction: Primary Hyperoxaluria Type I (PH1) is due to the deficiency of liver peroxisomal alanine:glyoxylate aminotransferase (AGT). The disease manifests as calcium oxalate stones that deposit at first in the kidneys and then in… read more here.
Keywords: primary hyperoxaluria; treatment; treatment options; ph1 ... See more keywords
Primary hyperoxaluria Type 1
Sign Up to like & getrecommendations! Published in 2020 at "Medicine"
DOI: 10.1097/md.0000000000020371
Abstract: Abstract Introduction: Primary hyperoxaluria type 1 (PH1) is a genetic autosomal recessively inherited disorder due to mutation in the alanine-glyoxylate aminotransferase (AGXT) gene. It usually presents in children with nephrolithiasis and/or nephrocalcinosis and progressive renal… read more here.
Keywords: ph1; primary hyperoxaluria; hyperoxaluria type; mutation ... See more keywords
Molecular analysis of the AGXT gene in Syrian patients suspected with primary hyperoxaluria type 1
Sign Up to like & getrecommendations! Published in 2021 at "BMC Medical Genomics"
DOI: 10.1186/s12920-021-00996-x
Abstract: Background Characterization of the molecular basis of primary hyperoxaluria type 1 (PH-1) in Syria has been accomplished through the analysis of 90 unrelated chromosomes from 45 Syrians patients with PH-1 from different regions. Methods Alanine… read more here.
Keywords: primary hyperoxaluria; analysis; agxt gene; hyperoxaluria type ... See more keywords
Lumasiran for primary hyperoxaluria type 1: What we have learned?
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2022.1052625
Abstract: Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive genetic disorder caused by mutations in the AGXT gene. The hepatic peroxisomal enzyme alanine glyoxylate aminotransferase (AGT) defects encoded by the AGXT gene increase oxalate… read more here.
Keywords: primary hyperoxaluria; treatment ph1; hyperoxaluria type; ph1 ... See more keywords
Primary Hyperoxaluria Type 1 with Homozygosity for a Double-mutated AGXT Allele in a 2-year-old Child
Sign Up to like & getrecommendations! Published in 2017 at "Indian Journal of Nephrology"
DOI: 10.4103/ijn.ijn_261_16
Abstract: Primary hyperoxaluria (PH) Type 1 is a rare, genetic disorder caused by deficiency of the liver enzyme alanine-glyoxylate aminotransferase, which is encoded by AGXT gene. We report a 2-year-old South Indian Tamil child with nephrocalcinosis… read more here.
Keywords: primary hyperoxaluria; agxt allele; hyperoxaluria type; type ... See more keywords