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… (More)

Topic mentions per year

Topic mentions per year

1949-2018
0204019492017

Papers overview

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2014
2014
Cystinosis is caused by mutations in the CTNS gene (17p13.2), which encodes for a lysosomal cystine/proton symporter termed… (More)
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2010
2010
The molecular and cellular mechanisms underlying nephropathic cystinosis, which exhibits generalized proximal tubular dysfunction… (More)
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Highly Cited
2007
Highly Cited
2007
BACKGROUND The full burden of nephropathic cystinosis in adulthood and the effects of long-term oral cysteamine therapy on its… (More)
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2004
2004
We report the excellent clinical outcomes of siblings with nephropathic cystinosis treated diligently with cysteamine starting at… (More)
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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… (More)
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1997
1997
Nephropathic cystinosis is one of the only lysosomal storage diseases for which there is an effective therapy against the basic… (More)
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1993
1993
OBJECTIVE To delineate the clinical characteristics of infantile nephropathic cystinosis in adult patients who have undergone… (More)
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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… (More)
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1987
1987
In patients with nephropathic cystinosis, corneal crystals develop by one year of age; they progressively accumulate and… (More)
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1986
1986
Eight nephropathic-cystinotic patients having undergone renal transplantation seven to 14 years previously were studied. Serious… (More)
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