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   Articles with "primary hyperoxaluria" as a keyword



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HOGA1 Gene Mutations of Primary Hyperoxaluria Type 3 in Tunisian Patients

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recommendations! 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

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

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recommendations! Published in 2025 at "Journal of Inherited Metabolic Disease"

DOI: 10.1002/jimd.70052

Abstract: Human alanine:glyoxylate aminotransferase (AGT) is a liver peroxisomal enzyme that metabolizes glyoxylate, the oxalate precursor, to glycine. AGT deficiency, due to recessive pathogenic changes in the AGXT gene, results in calcium oxalate accumulation and kidney… read more here.

Keywords: substitution; haplotype; primary hyperoxaluria; hyperoxaluria type ... See more keywords
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Clinical analysis of 13 children with primary hyperoxaluria type 1

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recommendations! 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

Subclinical myocardial disease in patients with primary hyperoxaluria and preserved left ventricular ejection fraction: a two-dimensional speckle-tracking imaging study

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recommendations! Published in 2019 at "Pediatric Nephrology"

DOI: 10.1007/s00467-019-04330-7

Abstract: Primary hyperoxaluria (PH) is characterized by progressive chronic kidney disease (CKD) and systemic oxalate deposition. Myocardial dysfunction might be present early in the course of the disease. However, this hypothesis has not yet been tested… read more here.

Keywords: primary hyperoxaluria; dimensional speckle; myocardial disease; two dimensional ... See more keywords

Hepatic Lactate Dehydrogenase A: An RNA Interference Target for the Treatment of All Known Types of Primary Hyperoxaluria

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recommendations! Published in 2021 at "Kidney International Reports"

DOI: 10.1016/j.ekir.2021.01.029

Abstract: Introduction Primary hyperoxaluria (PH) is a family of 3 rare genetic disorders of hepatic glyoxylate metabolism that lead to overproduction and increased renal excretion of oxalate resulting in progressive renal damage. LDHA inhibition of glyoxylate-to-oxalate… read more here.

Keywords: primary hyperoxaluria; rna interference; known types; ldha inhibition ... See more keywords

Long-Term Transplantation Outcomes in Patients With Primary Hyperoxaluria Type 1 Included in the European Hyperoxaluria Consortium (OxalEurope) Registry

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recommendations! 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.

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recommendations! 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.

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recommendations! 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
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Investigational therapies for primary hyperoxaluria.

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recommendations! Published in 2020 at "Bioconjugate chemistry"

DOI: 10.1021/acs.bioconjchem.0c00268

Abstract: Recent years have brought exciting new insights in the field of primary hyperoxaluria (PH), both on a basic research level, as well as through the progress of novel therapeutics in clinical development. To date only… read more here.

Keywords: therapies primary; primary hyperoxaluria; chemistry; investigational therapies ... See more keywords

Second transplantation after kidney graft loss in primary hyperoxaluria type 2: a pedigree study and mutation analysis

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recommendations! Published in 2024 at "Renal Failure"

DOI: 10.1080/0886022x.2024.2417743

Abstract: Abstract Background Primary hyperoxaluria type 2 (PH2) is a rare disorder caused by GRHPR mutations. Research on the mutation spectrum and pedigree of PH2 helps in comprehending its pathogenesis and clinical outcomes, guiding clinical diagnosis… read more here.

Keywords: analysis; primary hyperoxaluria; mutation; hyperoxaluria type ... See more keywords

Novel therapeutic approaches in primary hyperoxaluria

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recommendations! Published in 2018 at "Expert Opinion on Emerging Drugs"

DOI: 10.1080/14728214.2018.1552940

Abstract: ABSTRACT Introduction: Currently, three types of primary hyperoxaluria (PH I–III) are known, all based on different gene-mutations affecting the glyoxylate metabolism in the liver. Disease hallmark is an increased endogenous oxalate production and thus massively… read more here.

Keywords: primary hyperoxaluria; treatment; therapeutic approaches; disease ... See more keywords