Literature DB >> 4558815

Diagnosis and treatment of the Lesch-Nyhan syndrome.

J C Crawhall, J F Henderson, W N Kelley.   

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Year:  1972        PMID: 4558815     DOI: 10.1203/00006450-197205000-00004

Source DB:  PubMed          Journal:  Pediatr Res        ISSN: 0031-3998            Impact factor:   3.756


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  7 in total

1.  Lesch-Nyhan syndrome: molecular investigation of three French Canadian families using a hypoxanthine-guanine phosphoribosyltransferase cDNA probe.

Authors:  D Sinnett; L Lavergne; S B Melançon; L Dallaire; M Potier; D Labuda
Journal:  Hum Genet       Date:  1988-12       Impact factor: 4.132

2.  Genetic epidemiology of Lesch-Nyhan disease.

Authors:  N E Morton; J M Lalouel
Journal:  Am J Hum Genet       Date:  1977-05       Impact factor: 11.025

3.  Phenotypic and molecular spectrum of Korean patients with Lesch-Nyhan syndrome and attenuated clinical variants.

Authors:  Ja Hyang Cho; Jin-Ho Choi; Sun Hee Heo; Gu-Hwan Kim; Mi-Sun Yum; Beom Hee Lee; Han-Wook Yoo
Journal:  Metab Brain Dis       Date:  2019-05-25       Impact factor: 3.584

4.  Family studies of a Lesch-Nyhan patient from an isolated Canadian community.

Authors:  K Itiaba; M Banfalvi; J C Crawhall; J G Mongeau
Journal:  Am J Hum Genet       Date:  1973-03       Impact factor: 11.025

5.  Wanted: A vocabulary for talking about involuntary behaviors associated with Lesch-Nyhan disease.

Authors:  Kenneth L Robey; Daniel C Balboni
Journal:  JIMD Rep       Date:  2021-03-23

Review 6.  Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome.

Authors:  Rosa J Torres; Juan G Puig
Journal:  Orphanet J Rare Dis       Date:  2007-12-08       Impact factor: 4.123

7.  Description of the Molecular and Phenotypic Spectrum of Lesch-Nyhan Disease in Eight Chinese Patients.

Authors:  Lu Li; Xiaohui Qiao; Fei Liu; Jingjing Wang; Huijun Shen; Haidong Fu; Jian-Hua Mao
Journal:  Front Genet       Date:  2022-04-26       Impact factor: 4.772

  7 in total

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