"Cystinosis" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME.
| Descriptor ID |
D003554
|
| MeSH Number(s) |
C16.320.565.595.377 C18.452.648.595.377
|
| Concept/Terms |
Cystinosis- Cystinosis
- Cystine Disease
- Cystine Diseases
- Cystine Storage Disease
- Cystine Storage Diseases
- Storage Disease, Cystine
- Storage Diseases, Cystine
- Cystinoses
- Lysosomal Cystine Transport Protein, Defect Of
- Cystinosin, Defect of
- Defect of Cystinosin
- Defect of Cystinosins
- Nephropathic Cystinosis
- Cystine Diathesis
- Cystine Diatheses
- Diatheses, Cystine
- Diathesis, Cystine
- Cystinosis, Nephropathic
- Cystinoses, Nephropathic
- Nephropathic Cystinoses
|
Below are MeSH descriptors whose meaning is more general than "Cystinosis".
Below are MeSH descriptors whose meaning is more specific than "Cystinosis".
This graph shows the total number of publications written about "Cystinosis" by people in this website by year, and whether "Cystinosis" was a major or minor topic of these publications.
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click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2002 | 1 | 0 | 1 |
| 2005 | 1 | 0 | 1 |
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Below are the most recent publications written about "Cystinosis" by people in Profiles.
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Rossi S, Herrine SK, Navarro VJ. Cystinosis as a cause of noncirrhotic portal hypertension. Dig Dis Sci. 2005 Jul; 50(7):1372-5.
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Sakarcan A. The Fanconi syndrome of cystinosis: insights into the pathophysiology. Turk J Pediatr. 2002 Oct-Dec; 44(4):279-82.
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Charnas LR, Luciano CA, Dalakas M, Gilliatt RW, Bernardini I, Ishak K, Cwik VA, Fraker D, Brushart TA, Gahl WA. Distal vacuolar myopathy in nephropathic cystinosis. Ann Neurol. 1994 Feb; 35(2):181-8.
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Gahl WA, Bernardini IM, Dalakas MC, Markello TC, Krasnewich DM, Charnas LR. Muscle carnitine repletion by long-term carnitine supplementation in nephropathic cystinosis. Pediatr Res. 1993 Aug; 34(2):115-9.
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Gahl WA, Charnas L, Markello TC, Bernardini I, Ishak KG, Dalakas MC. Parenchymal organ cystine depletion with long-term cysteamine therapy. Biochem Med Metab Biol. 1992 Dec; 48(3):275-85.
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Sakarcan A, Aricheta R, Baum M. Intracellular cystine loading causes proximal tubule respiratory dysfunction: effect of glycine. Pediatr Res. 1992 Dec; 32(6):710-3.
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Gahl WA, Dalakas MC, Charnas L, Chen KT, Pezeshkpour GH, Kuwabara T, Davis SL, Chesney RW, Fink J, Hutchison HT. Myopathy and cystine storage in muscles in a patient with nephropathic cystinosis. N Engl J Med. 1988 Dec 1; 319(22):1461-4.
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Gahl WA, Bernardini I, Dalakas M, Rizzo WB, Harper GS, Hoeg JM, Hurko O, Bernar J. Oral carnitine therapy in children with cystinosis and renal Fanconi syndrome. J Clin Invest. 1988 Feb; 81(2):549-60.
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Bernardini I, Rizzo WB, Dalakas M, Bernar J, Gahl WA. Plasma and muscle free carnitine deficiency due to renal Fanconi syndrome. J Clin Invest. 1985 Apr; 75(4):1124-30.