Gill Rumsby

Author PubWeight™ 28.64‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
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