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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
601
|
| pubmed:dateCreated |
1978-4-26
|
| pubmed:abstractText |
Two brothers were found to have athetoid cerebral palsy, mental and growth retardation and evidence of self mutilation. One had passed a renal calculus and both had high serum uric acid levels. The diagnosis of Lesch-Nyhan syndrome was confirmed by the finding of low levels of hypoxanthine-guanine phosphoribosyl transferase in erythrocytes and by autoradiography of fibriblasts. The mother, maternal grandmother, a female sibling and a maternal aunt were identified as carriers of the X-linked mutation which was responsible for the enzyme deficiency in the two male siblings.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Dec
|
| pubmed:issn |
0028-8446
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:day |
14
|
| pubmed:volume |
86
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
518-21
|
| pubmed:dateRevised |
2004-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:272569-Allopurinol,
pubmed-meshheading:272569-Child,
pubmed-meshheading:272569-Female,
pubmed-meshheading:272569-Heterozygote,
pubmed-meshheading:272569-Humans,
pubmed-meshheading:272569-Infant,
pubmed-meshheading:272569-Lesch-Nyhan Syndrome,
pubmed-meshheading:272569-Male,
pubmed-meshheading:272569-Pedigree
|
| pubmed:year |
1977
|
| pubmed:articleTitle |
The Lesch-Nyhan syndrome: a family study.
|
| pubmed:publicationType |
Journal Article,
Case Reports
|