Accurate diagnosis of primary hyperoxaluria (PH) has important therapeutic consequences.
Since biochemical assessment can be unreliable, genetic testing is a crucial diagnostic tool …

The primary hyperoxalurias are three rare inborn errors of the glyoxylate metabolism in the
liver, which lead to massively increased endogenous oxalate production, thus elevating …

Patients with primary hyperoxaluria experience kidney stones from a young age and can
develop progressive oxalate nephropathy. Progression to kidney failure often develops over …

Erbliche Netzhauterkrankungen sind eine häufige Ursache für eine schwere
Sehbehinderung oder Erblindung bei Kindern und Erwachsenen im erwerbsfähigen Alter …

The clinical presentation of primary hyperoxaluria in children ranges from mildly
symptomatic nephrocalcinosis to very early onset end-stage kidney failure with systemic …

Background Systemic oxalosis is a severe complication seen in primary hyperoxaluria type I
patients with kidney failure. Deposition of insoluble calcium oxalate crystals in multiple …

Introduction Primary hyperoxaluria type 1 (PH1) is an inborn error of glyoxylate metabolism
whereby excessive endogenous oxalate production can result in kidney failure, systemic …

Background Infantile oxalosis, the most devastating form of primary hyperoxaluria type 1
(PH1), often leads to end-stage renal disease (ESRD) during the first weeks to months of life …

Introduction Infantile oxalosis is the most severe form of primary hyperoxaluria type 1 (PH1),
with onset of end-stage kidney disease (ESKD) during infancy. We aimed to analyze the …

Primary hyperoxaluria type 1 (PH1) is a rare disease due to alanine glyoxylate
aminotransferase enzyme deficiency caused by mutations in AGXT gene. Increased oxalate …