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 …
Background. Primary hyperoxaluria type 1 (PH1) is a phenotypically heterogeneous disease. To date the relationship between biochemical parameters and outcome is unclear …
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 …
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) …
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 …
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 …
Background and aim Primary hyperoxalurias are rare inborn errors of metabolism resulting in increased endogenous production of oxalate that leads to excessive urinary oxalate …
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 …
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 …