Lesch-Nyhan Syndrome in a Chinese Family with Mutation in the Hypoxanthine-Guanine Phosphoribosyltransferase Gene.
Clin Lab. 2018.
PMID: 29479880
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[A Japanese family with Lesch-Nyhan syndrome resulting from a new point mutation in hypoxanthine-guanine phosphoribosyltransferase gene].
No To Shinkei. 1997.
PMID: 9396032
Japanese.
Red Blood Cells from Individuals with Lesch-Nyhan Syndrome: Multi-Omics Insights into a Novel S162N Mutation Causing Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency.
Antioxidants (Basel). 2023.
PMID: 37760001
Free PMC article.
Search results
Page 1
Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome.
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 deficiency. …
Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity is an inborn error of purine metabolism associate …
Red Blood Cells from Individuals with Lesch-Nyhan Syndrome: Multi-Omics Insights into a Novel S162N Mutation Causing Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency.
Antioxidants (Basel). 2023 Aug 31;12(9):1699. doi: 10.3390/antiox12091699.
Antioxidants (Basel). 2023.
PMID: 37760001
Free PMC article.
Lesch-Nyhan syndrome (LN) is an is an X-linked recessive inborn error of metabolism that arises from a deficiency of purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). ...Herein, we present a high-throughput multi-omics …
Lesch-Nyhan syndrome (LN) is an is an X-linked recessive inborn error of metabolism that arises from a deficiency of pu …
Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome.
Nucleosides Nucleotides Nucleic Acids. 2016 Aug 2;35(8):426-33. doi: 10.1080/15257770.2015.1098660. Epub 2016 Jul 5.
Nucleosides Nucleotides Nucleic Acids. 2016.
PMID: 27379977
Lesch-Nyhan syndrome (LNS) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. The authors report a novel mutation which led to …
Lesch-Nyhan syndrome (LNS) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, …
Lesch-Nyhan Syndrome in a Chinese Family with Mutation in the Hypoxanthine-Guanine Phosphoribosyltransferase Gene.
Clin Lab. 2018 Jan 1;64(1):197-200. doi: 10.7754/Clin.Lab.2017.170813.
Clin Lab. 2018.
PMID: 29479880
BACKGROUND: Lesch-Nyhan syndrome (LNS) is a congenital X-linked recessive neurogenetic disorder caused by mutations in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene. ...The same mutation was reported in several Eur …
BACKGROUND: Lesch-Nyhan syndrome (LNS) is a congenital X-linked recessive neurogenetic disorder caused by mutations …
Lesch-Nyhan disease.
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 phosphoribosyltransferase …
Potential molecular link between the beta-amyloid precursor protein (APP) and hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme in Lesch-Nyhan disease and cancer.
AIMS Neurosci. 2021 Oct 28;8(4):548-557. doi: 10.3934/Neuroscience.2021030. eCollection 2021.
AIMS Neurosci. 2021.
PMID: 34877405
Free PMC article.
Review.
Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorders of purine metabolic in which the cytoplasmic enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. ...As a perspective, expression vectors for HGprt en …
Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorders of purine metabolic in which the cytoplasmic enz …
Phenotypic and molecular spectrum of Korean patients with Lesch-Nyhan syndrome and attenuated clinical variants.
Metab Brain Dis. 2019 Oct;34(5):1335-1340. doi: 10.1007/s11011-019-00441-0. Epub 2019 May 25.
Metab Brain Dis. 2019.
PMID: 31129767
Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder caused by mutations in the HPRT1 gene. ...The most common mutation type was truncating mutations including nonsense and frameshift mutations (45%). ...
Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder caused by mutations in the HPRT1 gene. ...The most …
Lesch-Nyhan Disease.
J Hist Neurosci. 2005 Mar;14(1):1-10. doi: 10.1080/096470490512490.
J Hist Neurosci. 2005.
PMID: 15804753
The first description of Lesch-Nyhan disease was in 1964; the first two patients were seen in 1963. ...The disease is now well understood on a molecular basis. Enzyme analysis and mutational analysis have made available a full range of genetic testing, includ …
The first description of Lesch-Nyhan disease was in 1964; the first two patients were seen in 1963. ...The disease is now well …
Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease.
Nucleosides Nucleotides Nucleic Acids. 2017 Nov 2;36(11):704-711. doi: 10.1080/15257770.2017.1395037. Epub 2017 Nov 29.
Nucleosides Nucleotides Nucleic Acids. 2017.
PMID: 29185864
Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. The authors report a novel point mutation that led to HGp …
Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypo …
Lesch-Nyhan syndrome: a case report.
J Korean Assoc Oral Maxillofac Surg. 2023 Aug 31;49(4):228-232. doi: 10.5125/jkaoms.2023.49.4.228.
J Korean Assoc Oral Maxillofac Surg. 2023.
PMID: 37641907
Free PMC article.
Lesch-Nyhan syndrome (LNS) is a rare X-linked recessive disorder caused by a mutation in the hypoxanthine phosphoribosyltransferase 1 (HPRT1) gene. This syndrome is characterized by excessive production of uric acid, mental retarda …
Lesch-Nyhan syndrome (LNS) is a rare X-linked recessive disorder caused by a mutation in the hypoxanthine …
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