Clinical characterization of primary hyperoxaluria type 3 in comparison with types 1 and 2

P Singh, JK Viehman, RA Mehta… - Nephrology Dialysis …, 2022 - academic.oup.com
Background Primary hyperoxaluria (PH) type 3 (PH3) is caused by mutations in the hydroxy-
oxo-glutarate aldolase 1 gene. PH3 patients often present with recurrent urinary stone …

A report from the European Hyperoxaluria Consortium (OxalEurope) Registry on a large cohort of patients with primary hyperoxaluria type 3

C Martin-Higueras, SF Garrelfs, JW Groothoff… - Kidney International, 2021 - Elsevier
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 …

Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcome

CS van Woerden, JW Groothoff… - Nephrology Dialysis …, 2003 - academic.oup.com
Background. Primary hyperoxaluria type 1 (PH1) is a phenotypically heterogeneous
disease. To date the relationship between biochemical parameters and outcome is unclear …

Primary hyperoxaluria type 1, a too often missed diagnosis and potentially treatable cause of end-stage renal disease in adults: results of the Dutch cohort

SM Van der Hoeven, CS Van Woerden… - Nephrology Dialysis …, 2012 - academic.oup.com
Abstract Background Primary hyperoxaluria Type 1, an inherited disorder with increased
endogenous oxalate production, leads to the development of urolithiasis, nephrocalcinosis …

Phenotype-genotype correlations and estimated carrier frequencies of primary hyperoxaluria

K Hopp, AG Cogal, EJ Bergstralh… - Journal of the …, 2015 - journals.lww.com
Primary hyperoxaluria (PH) is a rare autosomal recessive disease characterized by oxalate
accumulation in the kidneys and other organs. Three loci have been identified: AGXT (PH1) …

[HTML][HTML] Primary hyperoxaluria type 1

DS Milliner, PC Harris, DJ Sas, AG Cogal, JC Lieske - 2022 - europepmc.org
Primary hyperoxaluria type 1 (PH1) is caused by a deficiency of the liver peroxisomal
enzyme alanine: glyoxylate-aminotransferase (AGT), which catalyzes the conversion of …

Primary hyperoxaluria type 3 can also result in kidney failure: a case report

P Singh, CF Granberg, PC Harris, JC Lieske… - American Journal of …, 2022 - Elsevier
Primary hyperoxaluria (PH) is a group of genetic disorders that result in an increased
hepatic production of oxalate. PH type 3 (PH3) is the most recently identified subtype and …

Clinical spectrum of primary hyperoxaluria type 1: experience of a tertiary center

NA Soliman, MM Nabhan, SM Abdelrahman… - Nephrologie & …, 2017 - Elsevier
Background and aim Primary hyperoxalurias are rare inborn errors of metabolism resulting
in increased endogenous production of oxalate that leads to excessive urinary oxalate …

Clinical expression and long-term outcomes of primary hyperoxaluria types 1 and 2.

DS Milliner, DM Wilson, LH Smith - Journal of Nephrology, 1998 - europepmc.org
Primary hyperoxaluria, types 1 and 2, are rare disorders. Much of the information in the
literature has been derived from case reports and data registries limited to patients requiring …

[HTML][HTML] Clinical features of genetically confirmed patients with primary hyperoxaluria identified by clinical indication versus familial screening

DJ Sas, FT Enders, RA Mehta, X Tang, F Zhao… - Kidney international, 2020 - Elsevier
Primary hyperoxaluria is a rare monogenic disorder characterized by excessive hepatic
production of oxalate leading to recurrent nephrolithiasis, nephrocalcinosis, and progressive …