Condition: Primary Hyperoxaluria


rs121908524 in AGXT gene and Primary Hyperoxaluria PMID 22844106 2012 Primary hyperoxaluria type 1, a too often missed diagnosis and potentially treatable cause of end-stage renal disease in adults: results of the Dutch cohort.

PMID 17460142 2007 Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis.

PMID 12777626 2003 Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase.

PMID 10960483 2000 Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations.

PMID 15327387 2004 Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias.

PMID 20713123 2010 Human liver peroxisomal alanine:glyoxylate aminotransferase: Different stability under chemical stress of the major allele, the minor allele, and its pathogenic G170R variant.

PMID 15802217 2005 Overexpression of human alanine:glyoxylate aminotransferase in Escherichia coli: renaturation from guanidine-HCl and affinity for pyridoxal phosphate co-factor.

PMID 1703535 1990 Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1.

PMID 24990153 2014 S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation.

PMID 22529745 2012 Molecular requirements for peroxisomal targeting of alanine-glyoxylate aminotransferase as an essential determinant in primary hyperoxaluria type 1.

PMID 28619084 2017 Unusual clinical outcome of primary Hyperoxaluria type 1 in Tunisian patients carrying 33_34InsC mutation.

PMID 24934730 2014 Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1.

PMID 15365967 2004 Novel mutations of the AGXT gene causing primary hyperoxaluria type 1.

PMID 26252291 2015 Left Lateral Sectionectomy of the Native Liver and Combined Living-Related Liver-Kidney Transplantation for Primary Hyperoxaluria Type 1.

PMID 28202121 2017 [Oliguria and acute renal dysfunction in a six-month-old infant].

PMID 25644115 2015 Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.

PMID 24988064 2014 Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type.

rs180177321 in GRHPR gene and Primary Hyperoxaluria PMID 24116921 2014 Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2.