Primary hyperoxaluria (PH) is an inherited disorder that results from the overproduction of
endogenous oxalate, leading to recurrent kidney stones, nephrocalcinosis and eventually …

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

Background Primary hyperoxaluria type 1 (PH1) is a rare genetic disease that causes
progressive kidney damage and systemic oxalosis due to hepatic overproduction of oxalate …

Primary hyperoxaluria type 1 (PH1) is caused by a mutation in the AGXT gene, encoding the
hepatic peroxisomal enzyme alanine-glyoxylate aminotransferase (AGT). Defects in AGT …

The primary hyperoxalurias are rare disorders of glyoxylate metabolism. Accurate diagnosis
is essential for therapeutic and management strategies. We conducted a molecular study on …

Purpose Inherited kidney diseases are among the leading causes of kidney failure in
children, resulting in increased mortality, high healthcare costs and need for organ …

Background Primary hyperoxaluria (PH) results from genetic mutations in different genes of
glyoxylate metabolism, which cause significant increases in production of oxalate by the …

Newborn screening (NBS) began a revolution in the management of biochemical genetic
diseases, greatly increasing the number of patients for whom dietary therapy would be …

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

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