Cystinosis
dc.contributor.author | Thoene, Jess G. | en_US |
dc.date.accessioned | 2006-09-08T20:24:19Z | |
dc.date.available | 2006-09-08T20:24:19Z | |
dc.date.issued | 1995-07 | en_US |
dc.identifier.citation | Thoene, J. G.; (1995). "Cystinosis." Journal of Inherited Metabolic Disease 18(4): 380-386. <http://hdl.handle.net/2027.42/42498> | en_US |
dc.identifier.issn | 0141-8955 | en_US |
dc.identifier.issn | 1573-2665 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/42498 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=7494397&dopt=citation | en_US |
dc.description.abstract | Nephropathic cystinosis is an autosomal recessive inborn error of metabolism characterized by the lysosomal storage of the disulphide amino acid cystine. It produces a variety of clinical manifestations including failure to thrive, the renal Fanconi syndrome, eye findings, and end-stage renal disease. A variety of phenotypes are known; however, the molecular defect underlying any of the forms has not yet been identified. Therapy of cystinosis with cysteamine averts the otherwise inevitable renal failure, but systemic therapy does not improve the corneal keratopathy. A number of presentations in this review detail approaches to gene identification, systemic therapy with cysteamine, measurement of cystine, and pathophysiological effects at the cellular and clinical level. | en_US |
dc.format.extent | 472467 bytes | |
dc.format.extent | 3115 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
dc.publisher | Kluwer Academic Publishers; Society for the Study of Inborn Errors of Metabolism and Kluwer Academic Publishers ; Springer Science+Business Media | en_US |
dc.subject.other | Medicine & Public Health | en_US |
dc.subject.other | Internal Medicine | en_US |
dc.subject.other | Medical Biochemistry | en_US |
dc.subject.other | Pediatrics | en_US |
dc.title | Cystinosis | en_US |
dc.type | Article | en_US |
dc.subject.hlbsecondlevel | Kinesiology and Sports | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Section of Biochemical Genetics and Metabolism, Department of Pediatrics, 109 Observatory, 2612 SPH I, University of Michigan, 48109-2029, Ann Arbor, MI, USA | en_US |
dc.contributor.affiliationumcampus | Ann Arbor | en_US |
dc.identifier.pmid | 7494397 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/42498/1/10545_2004_Article_BF00710050.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1007/BF00710050 | en_US |
dc.identifier.source | Journal of Inherited Metabolic Disease | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
Files in this item
Remediation of Harmful Language
The University of Michigan Library aims to describe library materials in a way that respects the people and communities who create, use, and are represented in our collections. Report harmful or offensive language in catalog records, finding aids, or elsewhere in our collections anonymously through our metadata feedback form. More information at Remediation of Harmful Language.
Accessibility
If you are unable to use this file in its current format, please select the Contact Us link and we can modify it to make it more accessible to you.