|1.||Danpure, Christopher J: 8 articles (10/2013 - 04/2003)|
|2.||Fargue, Sonia: 7 articles (10/2013 - 08/2006)|
|3.||Cochat, Pierre: 7 articles (07/2011 - 01/2005)|
|4.||Cellini, Barbara: 4 articles (10/2015 - 03/2012)|
|5.||Rumsby, Gill: 4 articles (10/2013 - 09/2004)|
|6.||Montioli, Riccardo: 3 articles (10/2015 - 03/2012)|
|7.||Coulter-Mackie, Marion B: 3 articles (04/2015 - 09/2004)|
|8.||Kemper, Markus J: 3 articles (05/2011 - 07/2006)|
|9.||Zhang, Xiaoxuan: 3 articles (03/2010 - 04/2003)|
|10.||Oppici, Elisa: 2 articles (10/2015 - 02/2014)|
12/01/2010 - "Cortical nephrocalcinosis in an infant caused by primary hyperoxaluria type 1."
08/01/1996 - "Although nephrocalcinosis is a classical finding in primary hyperoxaluria type 1 (PH 1) associated with a poor renal survival it is exceptional in patients with PH type 2 (PH 2), characterized by a more favorable outcome. "
11/01/2010 - "Excellent renal function and reversal of nephrocalcinosis 8 years after isolated liver transplantation in an infant with primary hyperoxaluria type 1."
09/01/2015 - "Primary Hyperoxaluria Type 1: A Cause for Infantile Renal Failure and Massive Nephrocalcinosis."
07/01/2011 - "Therefore primary hyperoxaluria type 1 is responsible for hyperoxaluria leading to aggressive stone formation and nephrocalcinosis. "
|2.||Renal Insufficiency (Renal Failure)
12/01/2013 - "The sequence of events by which primary hyperoxaluria type 1 (PH1) causes renal failure is unclear. "
04/01/2003 - "Primary hyperoxaluria type 1 (PH1) is a rare inherited metabolic disorder in which deficiency of the liver enzyme AGT leads to renal failure and systemic oxalosis. "
10/15/2010 - "Early renal failure after domino liver transplantation using organs from donors with primary hyperoxaluria type 1."
12/01/1993 - "Liver transplantation before advanced renal failure in primary hyperoxaluria type 1."
04/01/1993 - "Should liver transplantation be performed before advanced renal insufficiency in primary hyperoxaluria type 1?"
07/01/1997 - "Primary hyperoxaluria type 1 and urolithiasis in children: Report of three cases."
05/01/2011 - "It also highlights the importance of the association of nephrocalcinosis and urolithiasis as key diagnostic manifestations of primary hyperoxaluria type 1."
07/01/2015 - "Primary hyperoxaluria type 1 diagnosed after kidney transplantation: The importance of pre-transplantation metabolic screening in recurrent urolithiasis."
10/01/2012 - "The high prevalence of pyridoxine-responsive genotypes and favourably prognosis of timely treatment warrant early diagnostic screening for primary hyperoxaluria Type 1 in patients with recurrent urolithiasis. "
10/01/2012 - "Primary hyperoxaluria Type 1, an inherited disorder with increased endogenous oxalate production, leads to the development of urolithiasis, nephrocalcinosis and end-stage renal disease (ESRD). "
06/01/2001 - "Hence the method is more sensitive and less time consuming than single-strand conformation polymorphism analysis for the detection of AGXT mutations, thus representing a useful and reliable tool for detecting the mutations responsible for primary hyperoxaluria type 1. The new technology could also be helpful in the search for healthy carriers of AGXT mutations amongst family members and their partners, and for screening of AGXT polymorphisms in patients with nephrolithiasis and healthy populations."
05/01/2004 - "Primary hyperoxaluria type 1 (PH1), an inherited cause of nephrolithiasis, is due to a functional defect of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT). "
11/01/2004 - "Infection (struvite) stones accounted for 42.2%; calcium stones, 26.7%; uric acid nephrolithiasis, 17.8%; and hereditary diseases (including primary hyperoxaluria type 1 and cystinuria), 13.3% of cases. "
|5.||Primary Hyperoxaluria (Oxaluria, Primary)
06/01/2008 - "The purpose of this study was to describe the skeletal manifestations of primary hyperoxaluria type 1 (PH1), the most common of the primary hyperoxalurias. "
05/26/1986 - "Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I."
08/01/2014 - "Glycolic aciduria associated with hyperoxaluria is regarded as the hallmark of type 1 primary hyperoxaluria. "
10/01/2010 - "Primary hyperoxaluria type 1, the most common form of primary hyperoxaluria, is an autosomal recessive disorder caused by a deficiency of the liver-specific enzyme alanine:glyoxylate aminotransferase. "
08/01/2006 - "Primary hyperoxaluria type 1, the most common form of primary hyperoxaluria, is an autosomal recessive disorder caused by a deficiency of the liver-specific enzyme alanine: glyoxylate aminotransferase (AGT). "
|3.||Alanine-glyoxylate transaminase (alanine-glyoxylate aminotransferase)
|4.||glyoxylic acid (glyoxylate)
|6.||Uric Acid (Urate)
|7.||Pyridoxal Phosphate (Pyridoxal 5 Phosphate)
|8.||Oxalates (Disodium Oxalate)
|10.||struvite (magnesium ammonium phosphate hexahydrate)
|4.||Transplantation (Transplant Recipients)