Add to ORKGPrimary hyperoxaluria type 1 is a rare autosomal recessive inherited disease, caused by mutations in AGXT gene, with an estimated incidence of 1:100.000 live births per year in Europe. Over 50% present with end stage renal disease at diagnosis. Case reports: The first case is a 14‑year‑old boy, second child to consanguineous parents, with history of recurrent lithiasis and ureteral dilatation starting 5 years before. Urine/stone analysis revealed calcium oxalate monohydrate crystals and markedly elevated urine oxalate excretion. Genetic tests confirmed a mutation in AGXT gene, c.1151T>C, in homozygosity. Two years after, nephrocalcinosis was identified and glomerular filtration rate gradually declined. Oxalate deposition in solid organs was...
Primary hyperoxaluria type 1 (PH1) is a rare genetic disorder characterized by allelic and clinical ...
Primary hyperoxaluria type 1 (PH1) is a rare metabolic disorder characterized by a defect in the liv...
Primary hyperoxaluria is a genetic disorder in glyoxylate metabolism that leads to systemic overprod...
Background: Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disease caused by a mut...
Background: Primary hyperoxalurias (PHs) are rare autosomal recessive diseases of the glyoxylate met...
The primary hyperoxalurias (PHs) are rare disorders of glyoxylate metabolism in which specific hepat...
There is ongoing debate about a genotype-phenotype correlation in patients with primary hyperoxaluri...
A genotype–phenotype correlation in patients with primary hyperoxaluria type 1 and specific AGXT mut...
Primary hyperoxaluria type 2 is a rare inherited disorder of glyoxylate metabolism causing nephrocal...
Background. Primary hyperoxaluria belongs to a group of rare metabolic disorders with autosomal rece...
Primary hyperoxaluria type 2 is a rare inherited disorder of glyoxylate metabolism causing nephrocal...
Primary hyperoxaluria type 1 (PH1) is a rare, autosomal recessive disease, caused by the defect of A...
Abstract Background Primary hyperoxaluria type 1 (PH1) is an autosomal recessive inherited disorder ...
Primary hyperoxalurias (PH) are inborn errors in the metabolism of glyoxylate and oxalate. PH type 1...
We sought to ascertain the long-term outcome and genotype-phenotype correlations available for prima...
Primary hyperoxaluria type 1 (PH1) is a rare genetic disorder characterized by allelic and clinical ...
Primary hyperoxaluria type 1 (PH1) is a rare metabolic disorder characterized by a defect in the liv...
Primary hyperoxaluria is a genetic disorder in glyoxylate metabolism that leads to systemic overprod...
Background: Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disease caused by a mut...
Background: Primary hyperoxalurias (PHs) are rare autosomal recessive diseases of the glyoxylate met...
The primary hyperoxalurias (PHs) are rare disorders of glyoxylate metabolism in which specific hepat...
There is ongoing debate about a genotype-phenotype correlation in patients with primary hyperoxaluri...
A genotype–phenotype correlation in patients with primary hyperoxaluria type 1 and specific AGXT mut...
Primary hyperoxaluria type 2 is a rare inherited disorder of glyoxylate metabolism causing nephrocal...
Background. Primary hyperoxaluria belongs to a group of rare metabolic disorders with autosomal rece...
Primary hyperoxaluria type 2 is a rare inherited disorder of glyoxylate metabolism causing nephrocal...
Primary hyperoxaluria type 1 (PH1) is a rare, autosomal recessive disease, caused by the defect of A...
Abstract Background Primary hyperoxaluria type 1 (PH1) is an autosomal recessive inherited disorder ...
Primary hyperoxalurias (PH) are inborn errors in the metabolism of glyoxylate and oxalate. PH type 1...
We sought to ascertain the long-term outcome and genotype-phenotype correlations available for prima...
Primary hyperoxaluria type 1 (PH1) is a rare genetic disorder characterized by allelic and clinical ...
Primary hyperoxaluria type 1 (PH1) is a rare metabolic disorder characterized by a defect in the liv...
Primary hyperoxaluria is a genetic disorder in glyoxylate metabolism that leads to systemic overprod...