|1.||Sansanwal, Poonam: 6 articles (03/2015 - 01/2010)|
|2.||Sarwal, Minnie M: 6 articles (03/2015 - 01/2010)|
|3.||Gahl, W A: 5 articles (10/2001 - 01/2000)|
|4.||Gahl, William A: 4 articles (06/2015 - 03/2006)|
|5.||Anikster, Y: 4 articles (10/2001 - 01/2000)|
|6.||Antignac, Corinne: 3 articles (06/2014 - 08/2009)|
|7.||Bernardini, Isa: 2 articles (06/2015 - 03/2006)|
|8.||Li, Li: 2 articles (03/2015 - 12/2010)|
|9.||Nevo, Nathalie: 2 articles (06/2014 - 05/2014)|
|10.||Dohil, Ranjan: 2 articles (03/2013 - 02/2008)|
01/01/2010 - "We performed semi-quantitative analysis of tubular density in kidney biopsies from patients with nephropathic cystinosis and demonstrated a significant reduction (p=0.0003) in the number of proximal tubules in the kidney tissue of patients with cystinosis compared to normal kidneys and kidneys with other causes of renal injury; this reduction appears to be associated with the over-expression of caspase-4. "
12/01/1999 - "In this study, we screened patients with infantile nephropathic cystinosis, those with late-onset cystinosis and patients whose phenotype does not fit the classical definitions. "
11/01/2011 - "There are three types of cystinosis, infantile nephropathic cystinosis being the most severe form. "
08/01/2011 - "Here we report the natural history of cystinosis in a 55-year-old man with intermediate nephropathic cystinosis diagnosed at 9 years of age. "
10/01/2010 - "We used renal proximal tubular epithelial (RPTE) cells and fibroblasts from patients with three clinical variants of cystinosis: nephropathic, intermediate and ocular to explore the specific injury mechanism in nephropathic cystinosis. "
|3.||Fanconi Syndrome (Syndrome, Fanconi)
10/01/2010 - "This study provides ultrastructural and functional evidence of abnormal mitochondrial autophagy in nephropathic cystinosis, which may contribute to renal Fanconi syndrome and progressive renal injury."
02/01/2010 - "This study provides ultrastructural and functional evidence of abnormal mitophagy in nephropathic cystinosis, which may contribute to the renal Fanconi syndrome and progressive renal injury."
06/01/2015 - "Nephropathic cystinosis is a lysosomal storage disorder characterized by renal tubular Fanconi syndrome in infancy and glomerular damage leading to renal failure at ∼10 years of age. "
03/01/2015 - "Nephropathic Cystinosis Presenting as Renal Fanconi Syndrome without Glycosuria."
11/01/2014 - "In 60% of children with hereditary Fanconi syndrome, nephropathic cystinosis was diagnosed, all of whom progressed to stage III chronic kidney disease (CKD) within 3.41 ± 1.42 years. "
|4.||Photophobia (Light Sensitivity)
05/01/2015 - "Photophobia and corneal crystal density in nephropathic cystinosis: an in vivo confocal microscopy and anterior-segment optical coherence tomography study."
05/01/2015 - "In patients with nephropathic cystinosis, the intensity of photophobia is associated with the density of crystals, infiltration of inflammatory cells, and nerve damage within the cornea."
05/01/2015 - "To analyze the correlation between photophobia and corneal crystal density in nephropathic cystinosis using in vivo confocal microscopy (IVCM) and anterior-segment optical coherence tomography (AS-OCT). "
10/01/2004 - "An 8-year-old boy with nephropathic cystinosis was experiencing debilitating and worsening photophobia from corneal crystal deposition. "
03/26/1987 - "In patients with nephropathic cystinosis, corneal crystals develop by one year of age; they progressively accumulate and eventually cause recurrent corneal erosions and photophobia. "
|5.||Renal Insufficiency (Renal Failure)
07/01/2015 - "Specificity of nephropathic cystinosis treatment is that the age of treatment initiation is crucial and determinant for the prognosis of the disease and the onset of final stage renal failure. "
11/01/2012 - "Nephropathic cystinosis, a lysosomal storage disorder, is associated with generalized proximal tubular dysfunction and progressive renal failure. "
04/01/2011 - "Polykaryocytic transformation of visceral epithelial cells is an important diagnostic clue of nephropathic cystinosis and should be carefully looked for in renal biopsy from a child with Fanconi's syndrome and renal insufficiency."
10/01/2010 - "The molecular and cellular mechanisms underlying nephropathic cystinosis, the most severe form, which exhibits generalized proximal tubular dysfunction and progressive renal failure, remain largely unknown. "
02/01/2010 - "The molecular and cellular mechanisms underlying nephropathic cystinosis, which exhibits generalized proximal tubular dysfunction and progressive renal failure, remain largely unknown. "
|3.||Ascorbic Acid (Vitamin C)
|5.||Proteins (Proteins, Gene)
|7.||Lysosome-Associated Membrane Glycoproteins
|8.||Citric Acid (Citrate)
|1.||Homologous Transplantation (Allograft)
|2.||Transplantation (Transplant Recipients)