1
|
Primary hyperoxaluria.
|
N Engl J Med
|
2013
|
3.04
|
2
|
The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3.
|
Nephrol Dial Transplant
|
2012
|
1.71
|
3
|
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
|
4
|
Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.
|
Hum Mutat
|
2009
|
1.55
|
5
|
Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2.
|
Hum Mutat
|
2003
|
1.48
|
6
|
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment.
|
Nephrol Dial Transplant
|
2012
|
1.48
|
7
|
Potential mechanisms of marked hyperoxaluria not due to primary hyperoxaluria I or II.
|
Kidney Int
|
2002
|
1.25
|
8
|
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
|
9
|
Congenital adrenal hyperplasia in adults: a review of medical, surgical and psychological issues.
|
Clin Endocrinol (Oxf)
|
2006
|
1.11
|
10
|
Multiple mechanisms of action of pyridoxine in primary hyperoxaluria type 1.
|
Biochim Biophys Acta
|
2013
|
1.07
|
11
|
Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis.
|
Mol Genet Metab
|
2004
|
1.02
|
12
|
Reconstruction of human hepatocyte glyoxylate metabolic pathways in stably transformed Chinese-hamster ovary cells.
|
Biochem J
|
2006
|
0.99
|
13
|
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
|
14
|
Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel.
|
Am J Nephrol
|
2005
|
0.95
|
15
|
Structural basis of substrate specificity in human glyoxylate reductase/hydroxypyruvate reductase.
|
J Mol Biol
|
2006
|
0.94
|
16
|
Molecular aetiology of primary hyperoxaluria and its implications for clinical management.
|
Expert Rev Mol Med
|
2004
|
0.94
|
17
|
Primary hyperoxaluria.
|
N Engl J Med
|
2013
|
0.92
|
18
|
Outcome of bilateral adrenalectomy in congenital adrenal hyperplasia: one unit's experience.
|
Eur J Endocrinol
|
2006
|
0.92
|
19
|
Primary hyperoxaluria type 2 in children.
|
Pediatr Nephrol
|
2002
|
0.90
|
20
|
Purification and characterization of recombinant human liver glycolate oxidase.
|
Arch Biochem Biophys
|
2007
|
0.88
|
21
|
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
|
22
|
Recognition of 5α-reductase-2 deficiency in an adult female 46XY DSD clinic.
|
Eur J Endocrinol
|
2011
|
0.80
|
23
|
Primary cultures of renal proximal tubule cells derived from individuals with primary hyperoxaluria.
|
Urol Res
|
2009
|
0.78
|
24
|
A de novo mutation in the AGXT gene causing primary hyperoxaluria type 1.
|
Am J Kidney Dis
|
2006
|
0.77
|
25
|
Chronic kidney disease with three cases of oxalate-like nephrosis in Ragdoll cats.
|
J Feline Med Surg
|
2008
|
0.76
|
26
|
Oxalate transport as contributor to primary hyperoxaluria: the jury is still out.
|
Am J Kidney Dis
|
2008
|
0.75
|
27
|
Genetic analysis: a diagnostic tool for primary hyperoxaluria type 1.
|
Pediatr Nephrol
|
2003
|
0.75
|
28
|
Is liver analysis still required for the diagnosis of primary hyperoxaluria type 2?
|
Nephrol Dial Transplant
|
2006
|
0.75
|
29
|
Delayed puberty from partial 17-alpha hydroxylase enzyme deficiency.
|
N Z Med J
|
2012
|
0.75
|
30
|
The nature of cardiac calcification in aortic stenosis.
|
Int J Cardiol
|
2012
|
0.75
|
31
|
Multiple tumors associated with late-onset congenital adrenal hyperplasia due to aberrant splicing of adrenal 21-hydroxylase gene.
|
Endocr Pract
|
2004
|
0.75
|
32
|
Case 205: renal stone ileus.
|
Radiology
|
2014
|
0.75
|