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Lesch-Nyhan Syndrome

Known as: Juvenile Hyperuricemia Syndrome, X-Linked Primary Hyperuricemias, Hyperuricemia Syndrome, Primary 
An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; HYPOXANTHINE… 
National Institutes of Health

Related topics

Related topics

30 relations
Abnormality of extrapyramidal motor functionAnemiaAnemia, MegaloblasticChoreoathetosis

Narrower (1)

Lesch-Nyhan Syndrome, Neurologic Variant

Broader (3)

Mental RetardationSyndromecongenital deficiency

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
1988
Highly Cited
1988
Epstein-Barr virus shuttle vector for stable episomal replication of cDNA expression libraries in human cells
Efficient transfection and expression of cDNA libraries in human cells has been achieved with an Epstein-Barr virus-based… 
Highly Cited
1987
Highly Cited
1987
Regulation of neutrophil NADPH oxidase activation in a cell-free system by guanine nucleotides and fluoride. Evidence for participation of a pertussis and cholera toxin-insensitive G protein.
Highly Cited
1986
Highly Cited
1986
Odorant- and guanine nucleotide-stimulated phosphoinositide turnover in olfactory cilia.
Highly Cited
1983
Highly Cited
1983
Deletion and amplification of the HGPRT locus in Chinese hamster cells
Somatic cell selective techniques and hybridization analyses with a cloned cDNA probe were used to isolate and identify Chinese… 
Highly Cited
1982
Highly Cited
1982
Transformation with DNA from 5-azacytidine-reactivated X chromosomes.
It has been shown that 5-azacytidine (5-Aza-Cyd) can reactivate genes on the inactive human X chromosome. It is assumed that the… 
Highly Cited
1981
Highly Cited
1981
Removal of O6-methylguanine from DNA of normal and xeroderma pigmentosum-derived lymphoblastoid lines
The ability to excise (repair) UV-induced pyrimidine dimers in Escherichia coli is not related to its ability to remove N-methyl… 
Highly Cited
1978
Highly Cited
1978
Lymphocyte ecto-5'-nucleotidase deficiency in agammaglobulinemia.
Fresh peripheral blood lymphocytes from eight patients with congenital agammaglobulinemia demonstrate reduced ecto-5… 
Highly Cited
1975
Highly Cited
1975
Gene linkage analysis in the mouse by somatic cell hybridization: Assignment of adenine phosphoribosyltransferase to chromosome 8 and α-galactosidase to the X chromosome
Somatic cell hybridization techniques were applied to gene linkage analysis in the laboratory mouse. Cells of an established line… 
Highly Cited
1973
Highly Cited
1973
Transfer of genetic information by purified metaphase chromosomes.
Transfer of genetic information from isolated mammalian chromosomes to recipient cells has been demonstrated. Metaphase… 
Highly Cited
1968
Highly Cited
1968
Urine uric acid to creatinine ratio—a screening test for inberited disorders of purine metabolism
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