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Results by year

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

Year Number of Results
1969 1
1970 2
1971 9
1972 6
1973 4
1974 6
1975 3
1976 9
1977 7
1978 1
1979 5
1980 3
1981 6
1982 2
1983 5
1984 5
1985 6
1986 2
1987 3
1988 3
1989 4
1990 4
1991 4
1992 2
1993 6
1994 4
1995 1
1996 6
1997 4
1998 6
1999 1
2000 6
2001 5
2002 3
2003 8
2004 2
2005 3
2006 3
2007 2
2008 3
2009 4
2010 5
2011 3
2012 2
2013 6
2014 7
2015 4
2016 3
2017 1
2018 5
2019 4
2020 1
2021 2
2023 1
2024 0

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205 results

Results by year

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Page 1
History of gene therapy.
Wirth T, Parker N, Ylä-Herttuala S. Wirth T, et al. Gene. 2013 Aug 10;525(2):162-9. doi: 10.1016/j.gene.2013.03.137. Epub 2013 Apr 23. Gene. 2013. PMID: 23618815 Review.
Examples for these are the positive recommendation for a gene therapy product (Glybera) by the EMA for approval in the European Union and the positive trials for the treatment of ADA deficiency, SCID-X1 and adrenoleukodystrophy. Nevertheless, our knowledge continues to gro …
Examples for these are the positive recommendation for a gene therapy product (Glybera) by the EMA for approval in the European Union and th …
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 enzymat
Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity is an inborn error of purine metabo
Genetic mimics of cerebral palsy.
Pearson TS, Pons R, Ghaoui R, Sue CM. Pearson TS, et al. Mov Disord. 2019 May;34(5):625-636. doi: 10.1002/mds.27655. Epub 2019 Mar 26. Mov Disord. 2019. PMID: 30913345 Review.
Cerebral palsy describes a heterogeneous group of neurodevelopmental disorders characterized by onset in infancy or early childhood of motor symptoms (including hypotonia, spasticity, dystonia, and chorea), often accompanied by developmental delay. The primary etiology of a cereb …
Cerebral palsy describes a heterogeneous group of neurodevelopmental disorders characterized by onset in infancy or early childhood of motor …
Management of Self-injurious Behaviors in Children with Neurodevelopmental Disorders: A Pharmacotherapy Overview.
Sabus A, Feinstein J, Romani P, Goldson E, Blackmer A. Sabus A, et al. Pharmacotherapy. 2019 Jun;39(6):645-664. doi: 10.1002/phar.2238. Epub 2019 Mar 27. Pharmacotherapy. 2019. PMID: 30793794 Free PMC article. Review.
Neurodevelopmental disorders encompass a heterogeneous group of disorders including, but not limited to, Smith-Magenis syndrome, Lesch-Nyhan disease, cri du chat syndrome, Prader-Willi syndrome, pervasive developmental disorders, fragile X sy
Neurodevelopmental disorders encompass a heterogeneous group of disorders including, but not limited to, Smith-Magenis syndrome, L
Self-injurious behavior.
Huisman S, Mulder P, Kuijk J, Kerstholt M, van Eeghen A, Leenders A, van Balkom I, Oliver C, Piening S, Hennekam R. Huisman S, et al. Neurosci Biobehav Rev. 2018 Jan;84:483-491. doi: 10.1016/j.neubiorev.2017.02.027. Epub 2017 Jul 8. Neurosci Biobehav Rev. 2018. PMID: 28694012 Free article. Review.
We demonstrate that the prevalence of SIB in several well-known genetic intellectual disability syndromes is noticeably higher than in individuals with ID in general, and that characteristics such as age of onset and topographies differ widely across syndromes. Each syndrome
We demonstrate that the prevalence of SIB in several well-known genetic intellectual disability syndromes is noticeably higher than in indiv …
A review of HPRT and its emerging role in cancer.
Townsend MH, Robison RA, O'Neill KL. Townsend MH, et al. Med Oncol. 2018 May 5;35(6):89. doi: 10.1007/s12032-018-1144-1. Med Oncol. 2018. PMID: 29730818 Review.
Hypoxanthine guanine phosphoribosyltransferase (HPRT) is a common salvage housekeeping gene with a historically important role in cancer as a mutational biomarker. ...In addition to its use as a reporter gene, HPRT also has important functionality in the body
Hypoxanthine guanine phosphoribosyltransferase (HPRT) is a common salvage housekeeping gene with a historically importa
Disorders of purines and pyrimidines.
Kelley RE, Andersson HC. Kelley RE, et al. Handb Clin Neurol. 2014;120:827-38. doi: 10.1016/B978-0-7020-4087-0.00055-3. Handb Clin Neurol. 2014. PMID: 24365355 Review.
The most commonly cited disorder, in the neurologic realm, is Lesch-Nyhan syndrome which presumably reflects its distinctive feature of self-mutilation. Expansion of our knowledge with molecular genetic methodology has helped to better identify and characteri …
The most commonly cited disorder, in the neurologic realm, is Lesch-Nyhan syndrome which presumably reflects its distin …
Hypoxanthine-guanine phosphoribosyl transferase deficiency.
de Bruyn CH. de Bruyn CH. Hum Genet. 1976 Feb 29;31(2):127-50. doi: 10.1007/BF00296142. Hum Genet. 1976. PMID: 765262 Review.
In man congential lack of enzyme of the purine salvage system, hypoxanthineguanine phosphoribosyl transferase (HG-PRT E.C. 2.4.2.8), is mostly accompanied by a picture known as the Lesch-Nyhan snydrome. The degree of deficiency may vary from zero to a few per …
In man congential lack of enzyme of the purine salvage system, hypoxanthineguanine phosphoribosyl transferase (HG-PRT E.C. 2.4.2.8), is most …
A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.
Sculley DG, Dawson PA, Emmerson BT, Gordon RB. Sculley DG, et al. Hum Genet. 1992 Nov;90(3):195-207. doi: 10.1007/BF00220062. Hum Genet. 1992. PMID: 1487231 Review.
Hypoxanthine-guanine phosphoribosyltransferase (HPRT, EC 2.4.2.8) is a purine salvage enzyme that catalyses the conversion of hypoxanthine and guanine to their respective mononucleotides. Partial deficiency of this enzyme can result in th
Hypoxanthine-guanine phosphoribosyltransferase (HPRT, EC 2.4.2.8) is a purine salvage enzyme that catalyses the convers
Inherited hyperuricemic disorders.
Nyhan WL. Nyhan WL. Contrib Nephrol. 2005;147:22-34. doi: 10.1159/000082539. Contrib Nephrol. 2005. PMID: 15604603 Review.
Methodology was a combination of personal experience and review of relevant literature. The overproduction of hyperuricemias result from deficiency of hypoxanthine-guanine phosphoribosyl transferase, overactivity of phosphoribosylpyrophosphate synthetase and …
Methodology was a combination of personal experience and review of relevant literature. The overproduction of hyperuricemias result from …
205 results