Published in Expert Rev Mol Med on January 09, 2004
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Biochemical analyses are instrumental in identifying the impact of mutations on holo and/or apo-forms and on the region(s) of alanine:glyoxylate aminotransferase variants associated with primary hyperoxaluria type I. Mol Genet Metab (2011) 0.92
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An overview of the role of genotyping in the diagnosis of the primary hyperoxalurias. Urol Res (2005) 0.80
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Primary hyperoxaluria. N Engl J Med (2013) 3.04
The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3. Nephrol Dial Transplant (2012) 1.71
Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine:glyoxylate aminotransferase encoded by the polymorphic minor allele. J Biol Chem (2012) 1.69
Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene. Hum Mutat (2009) 1.55
Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2. Hum Mutat (2003) 1.48
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Potential mechanisms of marked hyperoxaluria not due to primary hyperoxaluria I or II. Kidney Int (2002) 1.25
Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1. Clin Chem (2007) 1.19
Congenital adrenal hyperplasia in adults: a review of medical, surgical and psychological issues. Clin Endocrinol (Oxf) (2006) 1.11
Multiple mechanisms of action of pyridoxine in primary hyperoxaluria type 1. Biochim Biophys Acta (2013) 1.07
Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis. Mol Genet Metab (2004) 1.02
Reconstruction of human hepatocyte glyoxylate metabolic pathways in stably transformed Chinese-hamster ovary cells. Biochem J (2006) 0.99
Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency. J Clin Endocrinol Metab (2010) 0.99
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Outcome of bilateral adrenalectomy in congenital adrenal hyperplasia: one unit's experience. Eur J Endocrinol (2006) 0.92
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Purification and characterization of recombinant human liver glycolate oxidase. Arch Biochem Biophys (2007) 0.88
Tissue differences in the expression of mutations and polymorphisms in the GRHPR gene and implications for diagnosis of primary hyperoxaluria type 2. Clin Chem (2005) 0.87
Recognition of 5α-reductase-2 deficiency in an adult female 46XY DSD clinic. Eur J Endocrinol (2011) 0.80
Primary cultures of renal proximal tubule cells derived from individuals with primary hyperoxaluria. Urol Res (2009) 0.78
A de novo mutation in the AGXT gene causing primary hyperoxaluria type 1. Am J Kidney Dis (2006) 0.77
Chronic kidney disease with three cases of oxalate-like nephrosis in Ragdoll cats. J Feline Med Surg (2008) 0.76
Oxalate transport as contributor to primary hyperoxaluria: the jury is still out. Am J Kidney Dis (2008) 0.75
Is liver analysis still required for the diagnosis of primary hyperoxaluria type 2? Nephrol Dial Transplant (2006) 0.75
Genetic analysis: a diagnostic tool for primary hyperoxaluria type 1. Pediatr Nephrol (2003) 0.75
Delayed puberty from partial 17-alpha hydroxylase enzyme deficiency. N Z Med J (2012) 0.75
Multiple tumors associated with late-onset congenital adrenal hyperplasia due to aberrant splicing of adrenal 21-hydroxylase gene. Endocr Pract (2004) 0.75
Case 205: renal stone ileus. Radiology (2014) 0.75
The nature of cardiac calcification in aortic stenosis. Int J Cardiol (2012) 0.75