These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
6. Regional brain volume abnormalities in Lesch-Nyhan disease and its variants: a cross-sectional study. Schretlen DJ; Varvaris M; Ho TE; Vannorsdall TD; Gordon B; Harris JC; Jinnah HA Lancet Neurol; 2013 Dec; 12(12):1151-8. PubMed ID: 24383089 [TBL] [Abstract][Full Text] [Related]
7. Update on the phenotypic spectrum of Lesch-Nyhan disease and its attenuated variants. Torres RJ; Puig JG; Jinnah HA Curr Rheumatol Rep; 2012 Apr; 14(2):189-94. PubMed ID: 22198833 [TBL] [Abstract][Full Text] [Related]
9. Adenosine, dopamine and serotonin receptors imbalance in lymphocytes of Lesch-Nyhan patients. García MG; Puig JG; Torres RJ J Inherit Metab Dis; 2012 Nov; 35(6):1129-35. PubMed ID: 22403020 [TBL] [Abstract][Full Text] [Related]
10. Lesch-Nyhan syndrome and its variants: examining the behavioral and neurocognitive phenotype. Harris JC Curr Opin Psychiatry; 2018 Mar; 31(2):96-102. PubMed ID: 29227296 [TBL] [Abstract][Full Text] [Related]
11. Macrocytic anemia in Lesch-Nyhan disease and its variants. Cakmakli HF; Torres RJ; Menendez A; Yalcin-Cakmakli G; Porter CC; Puig JG; Jinnah HA Genet Med; 2019 Feb; 21(2):353-360. PubMed ID: 29875418 [TBL] [Abstract][Full Text] [Related]
12. New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients. Ceballos-Picot I; Le Dantec A; Brassier A; Jaïs JP; Ledroit M; Cahu J; Ea HK; Daignan-Fornier B; Pinson B Orphanet J Rare Dis; 2015 Jan; 10():7. PubMed ID: 25612837 [TBL] [Abstract][Full Text] [Related]
13. [Clinical spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency: study of 12 cases]. García Puig J; Mateos FA; Jiménez ML; Arcas J; Miranda ME; Oríz Vázquez J Med Clin (Barc); 1994 May; 102(18):681-7. PubMed ID: 8028417 [TBL] [Abstract][Full Text] [Related]
14. The biochemical basis of the neurobehavioral abnormalities in the Lesch-Nyhan syndrome: a hypothesis. Neychev VK; Mitev VI Med Hypotheses; 2004; 63(1):131-4. PubMed ID: 15193365 [TBL] [Abstract][Full Text] [Related]
15. Abnormalities in cellular adhesion of neuroblastoma and fibroblast models of Lesch Nyhan syndrome. Stacey NC; Ma MH; Duley JA; Connolly GP Neuroscience; 2000; 98(2):397-401. PubMed ID: 10854773 [TBL] [Abstract][Full Text] [Related]
16. The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism. Nyhan WL J Inherit Metab Dis; 1997 Jun; 20(2):171-8. PubMed ID: 9211189 [TBL] [Abstract][Full Text] [Related]
17. Do clinical features of Lesch-Nyhan disease correlate more closely with hypoxanthine or guanine recycling? Schretlen DJ; Callon W; Ward RE; Fu R; Ho T; Gordon B; Harris JC; Jinnah HA J Inherit Metab Dis; 2016 Jan; 39(1):85-91. PubMed ID: 26067813 [TBL] [Abstract][Full Text] [Related]
18. Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants. Sampat R; Fu R; Larovere LE; Torres RJ; Ceballos-Picot I; Fischbach M; de Kremer R; Schretlen DJ; Puig JG; Jinnah HA Hum Genet; 2011 Jan; 129(1):71-8. PubMed ID: 20981450 [TBL] [Abstract][Full Text] [Related]
19. Mild Lesch-Nyhan Disease in a Boy with a Null Mutation in HPRT1: An Exception to the Known Genotype-Phenotype Correlation. Bayat A; Christensen M; Wibrand F; Duno M; Lund A JIMD Rep; 2015; 18():135-7. PubMed ID: 25366392 [TBL] [Abstract][Full Text] [Related]
20. Lesch-Nyhan syndrome: the synthesis of inosine 5'-phosphate in the hypoxanthine-guanine phosphoribosyltransferase-deficient erythrocyte by alternate biochemical pathways. Lowy BA; Williams MK Pediatr Res; 1977 May; 11(5):691-4. PubMed ID: 870876 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]