Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1966 1
1967 2
1968 19
1969 10
1970 21
1971 37
1972 49
1973 63
1974 51
1975 33
1976 42
1977 59
1978 31
1979 38
1980 34
1981 31
1982 29
1983 25
1984 47
1985 39
1986 36
1987 20
1988 21
1989 40
1990 22
1991 24
1992 24
1993 22
1994 31
1995 8
1996 28
1997 16
1998 29
1999 19
2000 18
2001 24
2002 16
2003 19
2004 28
2005 25
2006 22
2007 21
2008 26
2009 15
2010 25
2011 25
2012 23
2013 28
2014 24
2015 24
2016 24
2017 17
2018 16
2019 23
2020 19
2021 19
2022 16
2023 22
2024 17

Text availability

Article attribute

Article type

Publication date

Search Results

1,481 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Total hypoxanthine-guanine phosphoribosyl transferase deficiency"
Page 1
Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome.
Torres RJ, Puig JG. Torres RJ, et al. Orphanet J Rare Dis. 2007 Dec 8;2:48. doi: 10.1186/1750-1172-2-48. Orphanet J Rare Dis. 2007. PMID: 18067674 Free PMC article. Review.
Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity is an inborn error of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzymatic d …
Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity is an inborn error of purine metabolism as …
Attenuated variants of Lesch-Nyhan disease.
Jinnah HA, Ceballos-Picot I, Torres RJ, Visser JE, Schretlen DJ, Verdu A, Laróvere LE, Chen CJ, Cossu A, Wu CH, Sampat R, Chang SJ, de Kremer RD, Nyhan W, Harris JC, Reich SG, Puig JG; Lesch-Nyhan Disease International Study Group. Jinnah HA, et al. Brain. 2010 Mar;133(Pt 3):671-89. doi: 10.1093/brain/awq013. Epub 2010 Feb 22. Brain. 2010. PMID: 20176575 Free PMC article. Review.
Lesch-Nyhan disease is a neurogenetic disorder caused by deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase. ...Our results were compared with a comprehensive review of 78 prior reports describing a total of 127 Le …
Lesch-Nyhan disease is a neurogenetic disorder caused by deficiency of the enzyme hypoxanthine-guanine ph …
The Lesch-Nyhan syndrome.
Nyhan WL. Nyhan WL. Annu Rev Med. 1973;24:41-60. doi: 10.1146/annurev.me.24.020173.000353. Annu Rev Med. 1973. PMID: 4575865 Review. No abstract available.
Somatic cell genetics.
Goldstein S. Goldstein S. Can Med Assoc J. 1971 Oct 9;105(7):738-41. Can Med Assoc J. 1971. PMID: 4938246 Free PMC article. Review. No abstract available.
Lesch-Nyhan disease.
Nyhan WL. Nyhan WL. Nucleosides Nucleotides Nucleic Acids. 2008 Jun;27(6):559-63. doi: 10.1080/15257770802135745. Nucleosides Nucleotides Nucleic Acids. 2008. PMID: 18600504
Lesch-Nyhan disease is the most severe or complete phenotype of deficiency in hypoxanthineguanine phosphoribosyltransferase; other variant enzymes are found in patients without abnormality in behavior or mental development, and there are intermediate phenotyp …
Lesch-Nyhan disease is the most severe or complete phenotype of deficiency in hypoxanthineguanine phosphoribosyltransfe …
Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis.
Ceballos-Picot I, Mockel L, Potier MC, Dauphinot L, Shirley TL, Torero-Ibad R, Fuchs J, Jinnah HA. Ceballos-Picot I, et al. Hum Mol Genet. 2009 Jul 1;18(13):2317-27. doi: 10.1093/hmg/ddp164. Epub 2009 Apr 2. Hum Mol Genet. 2009. PMID: 19342420 Free PMC article.
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency results in Lesch-Nyhan disease (LND), where affected individuals exhibit a characteristic neurobehavioral disorder that has been linked with dysfunction of dopaminergic pathways of …
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency results in Lesch-Nyhan disease (LND), wh …
Dopamine function in Lesch-Nyhan disease.
Nyhan WL. Nyhan WL. Environ Health Perspect. 2000 Jun;108 Suppl 3(Suppl 3):409-11. doi: 10.1289/ehp.00108s3409. Environ Health Perspect. 2000. PMID: 10852837 Free PMC article. Review.
Lesch-Nyhan disease is a disorder of purine metabolism resulting from mutations in the gene for hypoxanthine guanine phosphoribosyl transferase on the X chromosome. ...Positron emission tomography scanning has indicated deficiency …
Lesch-Nyhan disease is a disorder of purine metabolism resulting from mutations in the gene for hypoxanthine guanine …
1,481 results