Cystinosis - Wikipedia, the free encyclopedia
Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid cystine. It is a genetic disorder that typically
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http://en.wikipedia.org/wiki/Cystinosis...
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Cystinosis - Genetics Home Reference
Cystinosis is a condition in which the body accumulates the amino acid cystine ( a building block of proteins) within cells. Excess cystine forms crystals ...
http://ghr.nlm.nih.gov/condition=cystinosis...
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OMIM - CYSTINOSIS, NEPHROPATHIC; CTNS
MIM #219800 · Text · Description · Clinical Features · Biochemical Features · Clinical Management · Population Genetics ...
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=219800...
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Open Directory - Health: Conditions and Diseases: Rare Disorders ...
5 Sep 2009 ... Cornea and External Diseases - Cystinosis - Features photographs of an affected eye, information on clinical features and treatment. ...
http://www.dmoz.org/Health/Conditions_and_Diseases/Rare_Diso...
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Cystinosis -- GeneReviews -- NCBI Bookshelf
Nephropathic cystinosis in untreated children is characterized by renal tubular Fanconi syndrome, poor growth, hypophosphatemic rickets, impaired glomerular ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part...
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BioMed Central | Full text | Nephropathic cystinosis associated ...
Nephropathic cystinosis is an autosomal recessive disease resulting from intracellular accumulation of cystine leading to multiple organ failure. ...
http://www.biomedcentral.com/1471-2369/3/8...
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Corneal thickness in nephropathic cystinosis.
Cystinosis is a rare autosomal recessive metabolic disorder in which non-protein cystine accumulates within cellular lysosomes owing to a defect in ...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1041842/...
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Linkage of the gene for cystinosis to markers on the short arm of ...
Nephropathic cystinosis (MIM 21980) is an autosomal recessive disorder due to defective transport of the amino acid cystine out of lysosomes1. ...
http://www.nature.com/ng/journal/v10/n2/abs/ng0695-246.html...
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Metabolism of pantethine in cystinosis.
Pantethine is an experimental hypolipemic agent and has been suggested as a source of cysteamine in the treatment of nephropathic cystinosis. ...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC424158/...
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Cystinosin, the protein defective in cystinosis, is a H: + ...
Cystinosis is an inherited lysosomal storage disease characterized by defective transport of cystine out of lysosomes. However, the causative gene, CTNS, ...
http://www.nature.com/emboj/journal/v20/n21/abs/7594086a.htm...
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