Cystinosis Pages on BioPortfolio:

BioPortfolio - Cystinosis - InDepth
Cystinosis is an autosomal recessive genetic disorder of the renal tubules, ... Analysis of the CTNS gene in 32 cystinosis patients from Spain. ...
http://www.bioportfolio.com/indepth/Cystinosis.pdf...

BioPortfolio's Kidney, Urinary tract and Pregnancy Conditions News ...
Cystinosis · Cystitis Interstitial · Cystitis · Depression Postpartum · Diabetes Pregnancy · Diabetic Kidney Problems · Diabetic Nephropathies ...
http://www.bioportfolio.co.uk/news/kidney.html...

BioPortfolio - Cystinosis
Cystinosis is an autosomal recessive genetic disorder of the renal tubules, characterized by the presence of carbohydrates and amino acids in the urine, ...
http://www.bioportfolio.com/indepth/Cystinosis.html...

BioPortfolio's Genetic Abnormality Conditions News Feed
Cystinosis · Dandy-Walker Head Brain Malformations · Dextrocardia · DiGeorge · Digestive System Abnormalities · Duchenne Muscular Dystrophy ...
http://www.bioportfolio.co.uk/news/genetic_ab.html...

BioPortfolio - Fanconi Syndrome - InDepth
An Indian boy with nephropathic cystinosis: a case report and molecular analysis of CTNS ... Cystinosis is a rare autosomal recessive lysosomal storage ...
http://www.bioportfolio.com/indepth/Fanconi_Syndrome.pdf...

BioPortfolio's Metabolic and Nutritional Specialized Searches
Cystinosis · Deficiency · Diabetes · Diabetes Insipidus · Diabetes Insipidus Neurogenic · Diabetes_Mellitus · Diabetic Angiopathies ...
http://www.bioportfolio.co.uk/web/metabolic.shtml...

BioPortfolio - - Raptor Pharmaceuticals to Collaborate with Centre ...
Raptor plans to initiate a pivotal study of DR Cysteamine in cystinosis patients in 2009 ... dehydrogenase ("ALDH2") deficiency, nephropathic cystinosis and ...
http://www.bioportfolio.com/news/Raptor_Pharmaceuticals_to_C...

BioPortfolio's Rare Diseases News Feed
Cystinosis · Cystitis Interstitial · Cytomegalo · Cytomegalo Retinitis · Delirium · Dementia · Dermatomyositis · Dextrocardia · Diabetes Insipidus ...
http://www.bioportfolio.co.uk/news/rare.shtml...

BioPortfolio - Deglutition - InDepth
Report of a Brazilian Multicenter Study on Nephropathic Cystinosis. ... Brazilian Multicenter Cystinosis Study Group, Pediatric Nephrology Unit,-
Nephron ...
http://www.bioportfolio.com/indepth/Deglutition.pdf...

BioPortfolio - End-Stage Renal
Renal phenotype of the cystinosis mouse model is dependent upon genetic background. BACKGROUND: Cystinosis is caused by mutations in CTNS that encodes.
...
http://www.bioportfolio.com/indepth/End-Stage_Renal.html...

Results from other life science and pharmaceutical sites:

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
...
http://en.wikipedia.org/wiki/Cystinosis...

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...

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...

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...

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...

Google Directory - Health > Conditions and Diseases > Rare ...
Charity dedicated to assisting those with Cystinosis, their families, medical researchers and increasing the awareness of this condition. ...
http://www.google.com/Top/Health/Conditions_and_Diseases/Rar...

OMIM - CYSTINOSIS, ADULT NONNEPHROPATHIC
MIM #219750 · Text · Description · Clinical Features · Molecular Genetics · See Also · References · Contributors · Creation Date · Edit History ...
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=219750...

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.pubmedcentral.nih.gov/articlerender.fcgi?artid=10...

Nephropathic cystinosis in adults: natural history and effects of ...
21 Aug 2007 ... BACKGROUND: The full burden of nephropathic cystinosis in adulthood and the effects of long-term oral cysteamine therapy on its nonrenal ...
http://www.ncbi.nlm.nih.gov/pubmed/17709758...

Cystine storage in cultured myotubes from patients with ...
Myoblasts from cystinotic patients in culture underwent fusion to myotubes in a ... Lysosomal cystine counter-transport in heterozygotes for cystinosis. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=11...

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