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Nephropathic cystinosis

Known as: Cystine Storage Disease, Nephropathic Cystinoses, Cystine Disease 
An autosomal recessive hereditary disorder characterized by defective transportation of cystine across the lysosomal membranes and systemic… Expand
National Institutes of Health

Papers overview

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Highly Cited
2008
Highly Cited
2008
OBJECTIVE The purpose of this study is to assess the accuracy of dual energy CT (DECT) in the characterization of renal and… Expand
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Highly Cited
2007
Highly Cited
2007
Malignant gliomas have been shown to release glutamate, which kills surrounding brain cells, creating room for tumor expansion… Expand
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Review
2005
Review
2005
About 5% of American women and 12% of men will develop a kidney stone at some time in their life, and prevalence has been rising… Expand
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Review
2004
Review
2004
Glutathione (gamma-glutamyl-cysteinyl-glycine; GSH) is the most abundant low-molecular-weight thiol, and GSH/glutathione… Expand
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Review
2000
Review
2000
Although renal disease is the most prominent feature of the lysosomal storage disease cystinosis, corneal cystine crystal… Expand
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Highly Cited
1998
Highly Cited
1998
Nephropathic cystinosis, an autosomal recessive disorder resulting from defective lysosomal transport of cystine, is the most… Expand
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Highly Cited
1993
Highly Cited
1993
BACKGROUND The lysosomal storage disease cystinosis results in renal failure at approximately 10 years of age. Although oral… Expand
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Highly Cited
1987
Highly Cited
1987
We treated 93 children with nephropathic cystinosis with oral cysteamine (mean dose, 51.3 mg per kilogram of body weight per day… Expand
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Highly Cited
1982
Highly Cited
1982
The activity of a cystine transport system in lysosomes prepared from the leukocytes of patients with cystinosis was found to be… Expand
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Highly Cited
1963
Highly Cited
1963
An apparatus for pressing and vacuum treating cheese curd to provide a cheese block wherein the receptacle for the curd is used… Expand
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