Linked Life Data

499264

Source:http://linkedlifedata.com/resource/pubmed/id/499264

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1980-1-24
pubmed:abstractText
A patient with clearly developed features of the full Lesch-Nyhan syndrome and complete lack of activity of hypoxynthine-phosphoribosyltransferase is described. The clinical picture was characterized by absence of spasticity, good control of autoaggression by behavior therapy, and no signs of renal insufficiency. After death, which was caused by a viral infection, pathological examination and a search for material immunologically cross-reacting with hypoxanthine-phosphoribosyltransferase were possible. In spite of increased serum urate levels and raised urinary uric acid excretion there were no signs of urate deposits or damage in the internal organs, including the kidneys. Crossreactive material was found in the liver, kidneys and spleen, a relatively rare finding in the full Lesch-Nyhan-syndrome. The absence of any specific pathological changes in the brain of this patient is in agreement with earlier reports.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0340-6199
pubmed:author
pubmed:issnType
Print
pubmed:volume
132
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
93-8
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1979
pubmed:articleTitle
Pathological and immunological observations in a case of Lesch-Nyhan-syndrome.
pubmed:publicationType
Journal Article, Case Reports