Source:http://linkedlifedata.com/resource/pubmed/id/20638392
Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1-2
|
| pubmed:dateCreated |
2010-10-4
|
| pubmed:abstractText |
Lesch-Nyhan (LND) disease is an inborn error of purine metabolism which results from deficiency of the activity of hypoxanthine-guanine phosphoribosyltransferase (HPRT). In the classical form of the disease the activity of the enzyme is completely deficient and the patient has cognitive impairment, spasticity, dystonia and self-injurious behaviour, as well as elevated concentrations of uric acid in blood and urine that leads to consequences such as nephropathy, urinary tract calculi and tophaceous gout. There are disease variants without self-injurious behaviour. In these cases neurological manifestations may vary widely. The HPRT1 gene is located on the X chromosome in position Xq26-27.2, and mutations have been found in quite a large number of patients.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Oct
|
| pubmed:issn |
0027-5107
|
| pubmed:author |
pubmed-author:AndrighettoGilbertoG,
pubmed-author:AnesiLauraL,
pubmed-author:DolcettaDiegoD,
pubmed-author:FairbanksLynetteL,
pubmed-author:FaninErikaE,
pubmed-author:FortunatiElisabettaE,
pubmed-author:GioachiniIleniaI,
pubmed-author:HladnikUrosU,
pubmed-author:LorenzettoElisaE,
pubmed-author:NyhanWilliam LWL,
pubmed-author:ParmigianiPietroP,
pubmed-author:ZandonàGessicaG,
pubmed-author:de GemmisPaolaP
|
| pubmed:copyrightInfo |
Copyright © 2010 Elsevier B.V. All rights reserved.
|
| pubmed:issnType |
Print
|
| pubmed:day |
13
|
| pubmed:volume |
692
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
1-5
|
| pubmed:meshHeading |
pubmed-meshheading:20638392-Family Health,
pubmed-meshheading:20638392-Female,
pubmed-meshheading:20638392-Heterozygote,
pubmed-meshheading:20638392-Humans,
pubmed-meshheading:20638392-Hypoxanthine Phosphoribosyltransferase,
pubmed-meshheading:20638392-Italy,
pubmed-meshheading:20638392-Lesch-Nyhan Syndrome,
pubmed-meshheading:20638392-Male,
pubmed-meshheading:20638392-Mutation
|
| pubmed:year |
2010
|
| pubmed:articleTitle |
Analysis of the HPRT1 gene in 35 Italian Lesch-Nyhan families: 45 patients and 77 potential female carriers.
|
| pubmed:affiliation |
Mauro Baschirotto Institute for Rare Diseases, B.I.R.D. Foundation, 36023 Costozza di Longare, Vicenza, Italy.
|
| pubmed:publicationType |
Journal Article
|