|1.||Antignac, Corinne: 16 articles (07/2015 - 08/2002)|
|2.||Levtchenko, Elena N: 14 articles (08/2015 - 10/2002)|
|3.||Jones, Dean P: 12 articles (06/2014 - 07/2005)|
|4.||Gahl, William A: 11 articles (06/2015 - 12/2003)|
|5.||Goldfarb, David S: 10 articles (08/2015 - 04/2005)|
|6.||Daudon, Michel: 10 articles (05/2015 - 07/2003)|
|7.||Cherqui, Stephanie: 9 articles (11/2015 - 01/2012)|
|8.||Emma, Francesco: 9 articles (01/2015 - 01/2010)|
|9.||Levtchenko, Elena: 9 articles (09/2014 - 09/2004)|
|10.||Hesse, A: 9 articles (04/2012 - 01/2000)|
06/01/1996 - "Genetic linkage analysis with markers of the genomic region of rBAT in chromosome 2 (G band 2p16.3) and intragenic markers of rBAT have demonstrated genetic heterogeneity for cystinuria; the rBAT gene is linked to type I cystinuria, but not to type III. Biochemical, genetic and clinical studies are needed to identify the additional cystinuria genes; a low-affinity cystine reabsortion system and the putative light subunit of rBAT are additional candidate genes for cystinuria. "
05/07/2015 - "Cystinuria is an autosomal recessive disorder affecting renal cystine reabsorption; it causes 1% and 8% of stones in adults and children, respectively. "
05/01/2015 - "More recently, we demonstrated CDME's efficacy in inhibiting L-cystine crystal growth in vivo utilizing a murine model of cystinuria. "
01/01/2014 - "Most of 129S2/SvPasCrl exhibited pathognomonic cystine crystals in urine and an aminoaciduria profile similar to that of patients with cystinuria. "
11/01/2013 - "To determine urinary cystine concentrations, inheritance, and mutations in the SLC3A1 and SLC7A9 genes associated with cystinuria in 3 breeds. "
09/01/2007 - "We have developed a new protocol with DP to validate our Slc7a9 knockout mouse model for the study of the therapeutic effect of drugs in the treatment of cystine lithiasis. "
11/01/2004 - "11 patients with recurrent cystine calculosis and 15 healthy volunteers participated in the study. "
12/01/2000 - "[Cystine lithiasis: study of a series of 116 cases]."
01/01/1972 - "[Clinical studies on 3 cases of cystine calculosis]."
10/01/1967 - "[Study of the urine in cystine lithiasis. "
11/01/2007 - "Again, Met supplementation improved (P < 0.01) growth performance, whereas supplemental cystine reduced (P < 0.05) weight gain and feed intake, but increased (P < 0.01) gain:feed. "
11/01/2007 - "Supplemental Met improved (P < 0.01) growth performance, but weight gain and feed intake were depressed (P < 0.01) by cystine supplementation. "
11/01/2007 - "Whereas 0.2% added L-cystine depressed feed intake 6.9%, weight gain was reduced only 3.6%. "
03/01/2006 - "The methionine-supplemented groups had lower food intake but higher weight gain than the cystine-supplemented groups. "
10/01/2004 - "A high level of cystine (0.568%) depressed weight gain and feed intake (P < 0.05), but cystine supplementation in the diets lowered the plasma homocysteine concentration (P < 0.05). "
02/01/2010 - "The goal of this work was to study white matter (WM) integrity in children with cystinosis, a rare lysosomal storage disorder resulting in cystine accumulation in peripheral and central nervous system tissue. "
08/01/1995 - "Metabolic studies of rat renal tubule cells loaded with cystine: the cystine dimethylester model of cystinosis."
10/15/1993 - "The lysosomal accumulation of cystine in this mutant mouse provides the experimental opportunity to study some aspects of the deficiency of lysosomal cystine transport noted in cystinosis."
02/01/1987 - "Cystinosis was diagnosed in the first trimester of pregnancy by studies of uptake and retention of [35S]-cystine by intact biopsy samples of chorionic villi. "
08/31/1984 - "The results on cystinotic fibroblasts are consistent with those observed in leucocytes, suggesting that fibroblasts can be useful in further studies to elucidate the clearance defect of cystine in cystinosis as well as its potential in antenatal diagnosis."
03/01/1985 - "Spontaneous dissolution of the cystine calculi was observed and many tiny fragments of cystine were expulsed through the nephrostomy, following which renal function improved. "
01/01/2006 - "In this study, we reviewed cystine calculi cases in the west of Iran to determine their common presentations and response to different therapeutic modalities. "
01/01/2006 - "Pediatric cystine calculi in west of Iran: a study of 22 cases."
01/01/1997 - "Patients with radiolucent or cystine stones, stones larger than 3 cm or staghorn calculi, multiple stones with a total burden of more than 3 cm and those not amenable to follow-up were excluded from the study. "
12/01/1992 - "To study the radiopacity of cystine calculi. "
|3.||Uric Acid (Urate)
|5.||Glycine (Aminoacetic Acid)
|6.||struvite (magnesium ammonium phosphate hexahydrate)
|1.||Lithotripsy (Extracorporeal Shockwave Lithotripsy)