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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… 
National Institutes of Health

Related topics

Related topics

47 relations

Narrower (2)

Abderhalden-Kaufmann-Lignac syndromeJuvenile nephropathic cystinosis (disorder)
Adult Fanconi syndromeAutosomal recessive inheritanceCTNS geneCerebral atrophy

Broader (2)

Amino Acid Metabolism, Inborn ErrorsRenal Tubular Transport, Inborn Errors

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2013
Highly Cited
2013
Hydrogen sulphide may be a novel downstream signal molecule in nitric oxide-induced heat tolerance of maize (Zea mays L.) seedlings.
Nitric oxide (NO) is a second messenger with multifunction that is involved in plant growth, development and the acquisition of… 
Highly Cited
2010
Highly Cited
2010
New and evolving concepts in the imaging and management of urolithiasis: urologists' perspective.
Urolithiasis is a universal problem that has become increasingly prevalent in the United States and has a high rate of recurrence… 
Highly Cited
2000
Highly Cited
2000
Status of glutathione and other thiols and disulfides in human plasma.
Highly Cited
1998
Highly Cited
1998
Accurate determination of chemical composition of urinary calculi by spiral computerized tomography.
Highly Cited
1991
Highly Cited
1991
Chemical form of selenium, critical metabolites, and cancer prevention.
Methylated selenides are prominent metabolites at the dietary levels used for obtaining anticarcinogenic effects with selenium… 
Highly Cited
1987
Highly Cited
1987
Thermal destruction processes in proteins involving cystine residues.
Highly Cited
1986
Highly Cited
1986
Purification and characterization of trypanothione reductase from Crithidia fasciculata, a newly discovered member of the family of disulfide-containing flavoprotein reductases.
Trypanothione reductase from Crithidia fasciculata has been purified ca. 1400-fold to homogeneity in an overall yield of 60%. The… 
Highly Cited
1978
Highly Cited
1978
Enzymuria as a marker of renal injury and disease: studies of N-acetyl-beta-glucosaminidase in the general population and in patients with renal disease.
Urinary excretion of N-acetyl-beta-D-glucosaminidase (NAG) was shown to be reproducible in random urine specimens when expressed… 
Highly Cited
1976
Highly Cited
1976
Complete amino acid analysis of proteins from a single hydrolysate.
Highly Cited
1964
Highly Cited
1964
Biogeochemistry of organic matter—II Thermal reaction kinetics and transformation products of amino compounds
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