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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3
|
| pubmed:dateCreated |
1982-10-21
|
| pubmed:abstractText |
The classical Lesch-Nyhan syndrome has the deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) activity as the result of mutation in the structural gene for the enzyme located on the X chromosome and is believed to be of X-linked recessive or sex-linked mode of inheritance. This is the first report of a girl who showed typical clinical features and biochemical characteristics of the classical Lesch-Nyhan syndrome. Her mother was not a heterozygote for a deficiency of HGPRT. Possible genetic mechanisms responsible for this case were discussed.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jul
|
| pubmed:issn |
0040-8727
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
137
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
275-82
|
| pubmed:dateRevised |
2004-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:7112549-Adenine Phosphoribosyltransferase,
pubmed-meshheading:7112549-Erythrocytes,
pubmed-meshheading:7112549-Female,
pubmed-meshheading:7112549-Fibroblasts,
pubmed-meshheading:7112549-Heterozygote,
pubmed-meshheading:7112549-Humans,
pubmed-meshheading:7112549-Hypoxanthine Phosphoribosyltransferase,
pubmed-meshheading:7112549-Infant,
pubmed-meshheading:7112549-Lesch-Nyhan Syndrome,
pubmed-meshheading:7112549-Pedigree
|
| pubmed:year |
1982
|
| pubmed:articleTitle |
A female case of the Leach-Nyhan syndrome.
|
| pubmed:publicationType |
Journal Article,
Case Reports
|