Add to ORKGLicense, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Background. Primary hyperoxaluria belongs to a group of rare metabolic disorders with autosomal recessive inheritance. It results from genetic mutations of the AGXT gene, which is more common due to higher consanguinity rates in the developing countries. Clinical features at presentation are heterogeneous even in children from the same family; this study was conducted to determine the clinical characteristics, type of AGXT mutation, and outcome in children diagnosed with PH1 at a tertiary referral center in Oman. Method. Retrospective review of children diagnosed with PH1 at a tertiary hospital in Oman from 20...
Based on the single-center case reports and all reported patients with primary hyperoxaluria type 1 ...
Primary hyperoxaluria is a group of rare inherited diseases characterized by impaired oxalate metabo...
BACKGROUND: Primary hyperoxaluria type 3 (PH3) is characterized by mutations in the 4-hydroxy-2-oxog...
Background. Primary hyperoxaluria belongs to a group of rare metabolic disorders with autosomal rece...
Primary hyperoxaluria type 1 (PH1) is an inborn error of glyoxylate metabolism. It results from gene...
Primary hyperoxaluria type 1 (PH1) is a rare, autosomal recessive disease, caused by the defect of A...
BACKGROUND: Primary hyperoxaluria type 1 (PH1) is an inborn error of glyoxylate metabolism with an e...
Primary hyperoxaluria type 1 (PH1) is a rare metabolic disorder characterized by a defect in the liv...
Background: Primary hyperoxaluria type 1 (PH1) is characterized by progressive renal insuf-ficiency ...
We sought to ascertain the long-term outcome and genotype-phenotype correlations available for prima...
Introduction: Primary hyperoxaluria type I (PH1) is an autosomal recessive rare disorder, cause...
Primary hyperoxalurias (PH) are devastating, autosomal recessive diseases causing renal stones. Undi...
Primary hyperoxalurias (PH) are devastating, autosomal recessive diseases causing renal stones. Undi...
Background/Aims: Primary hyperoxaluria type 1 (PH1) is caused by the deficiency of the liver enzyme ...
Primary hyperoxaluria (PH) is a rare autosomal recessive disease commonly arising in childhood and p...
Based on the single-center case reports and all reported patients with primary hyperoxaluria type 1 ...
Primary hyperoxaluria is a group of rare inherited diseases characterized by impaired oxalate metabo...
BACKGROUND: Primary hyperoxaluria type 3 (PH3) is characterized by mutations in the 4-hydroxy-2-oxog...
Background. Primary hyperoxaluria belongs to a group of rare metabolic disorders with autosomal rece...
Primary hyperoxaluria type 1 (PH1) is an inborn error of glyoxylate metabolism. It results from gene...
Primary hyperoxaluria type 1 (PH1) is a rare, autosomal recessive disease, caused by the defect of A...
BACKGROUND: Primary hyperoxaluria type 1 (PH1) is an inborn error of glyoxylate metabolism with an e...
Primary hyperoxaluria type 1 (PH1) is a rare metabolic disorder characterized by a defect in the liv...
Background: Primary hyperoxaluria type 1 (PH1) is characterized by progressive renal insuf-ficiency ...
We sought to ascertain the long-term outcome and genotype-phenotype correlations available for prima...
Introduction: Primary hyperoxaluria type I (PH1) is an autosomal recessive rare disorder, cause...
Primary hyperoxalurias (PH) are devastating, autosomal recessive diseases causing renal stones. Undi...
Primary hyperoxalurias (PH) are devastating, autosomal recessive diseases causing renal stones. Undi...
Background/Aims: Primary hyperoxaluria type 1 (PH1) is caused by the deficiency of the liver enzyme ...
Primary hyperoxaluria (PH) is a rare autosomal recessive disease commonly arising in childhood and p...
Based on the single-center case reports and all reported patients with primary hyperoxaluria type 1 ...
Primary hyperoxaluria is a group of rare inherited diseases characterized by impaired oxalate metabo...
BACKGROUND: Primary hyperoxaluria type 3 (PH3) is characterized by mutations in the 4-hydroxy-2-oxog...