[1] Nguyen KV,Nyhan WL.Mutation in the human HPRT1 ge ne and the Lesch-Nyhan syndrome[J].Nucleos Nucleot Nucl Acids,2016,35(8):426-433.
[2] Muzio LL,Pastorino L,Levanat S,et al.Clinical utility gene card for:Gorlin Syndrome-update 2013[J].Eur J Hum Genet,2013,21(10):3-5.
[3] Mccarthy GT,Green EM,Ogunbona O,et al.A population study of Lesch-Nyhan disease in the UK[J].Dev Med Child Neurol,2011;53(1):34-39.
[4] Huang J,Zhang C,Guo Q,et al.Lesch-Nyhan syndrome in a Chinese family with mutation in the hypoxanthine-guanine phosphoribosyltransferase gene[J].Clin Lab,2018,64(1):197.
[5] Cho JH,Choi JH,Heo SH,et al.Phenotypic and molecular spectrum of Korean patients with Lesch-Nyhan syndrome and attenuated clinical variants[J].Metab Brain Dis,2019.https://doi.org/10.1007/s11011-019-00441-0.
[6] Ng N,Kaur A,Shenoy M.Recurrent kidney stones in a child with Lesch-Nyhan syndrome:questions[J].Pediatr Nephrol,2019,34(3):423-424.
[7] Schretlen DJ,Varvaris M,Ho TE,et al.Regional brain volume abnormalities in Lesch-Nyhan disease and its variants:a cross-sectional study[J].Lancet Neurol,2013,12(12):1151-1158.
[8] Nguyen KV,Naviaux RK,Nyhan WL.Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease[J].Nucleos Nucleot Nucl,2017,36(11):704-711.
[9] Jacomelli G,Baldini E,Mugnaini C,et al.,Inhibiting PNP for the therapy of hyperuricemia in Lesch-Nyhan disease:Preliminary in vitro studies with analogues of immucillin-G[J].J Inherit Metab Dis,2019,42(1):178-185.
[10] González AC,Díaz AV,Riesco DF,et al.Oral self-mutilation in Lesch-Nyhan Syndrome.Case report[J].Rev Chil Pediatr,2018,89(1):86-91.
[11] Gordon RB,Dawson PA,Sculley DG,et al.The molecular characterisation of HPRT CHERMSIDE and HPRT COORPAROO:two Lesch-Nyhan patients with reduced amounts of mRNA[J].Gene,1991,108(2):299-304.
[12] Fu R,Ceballos-Picot I,Torres RJ,et al.Genotype-phenotype correlations in neurogenetics:Lesch-Nyhan disease as a model disorder[J].Brain,2014,137(5):1282-1303.
[13] Robertson DM,Kalangara JP,Baucom RB,et al.A reconstituted telomerase-immortalized human corneal epithelium in vivo:a pilot study[J].Curr Eye Res,2011,36(8):706-712. |
