Literature DB >> 6066021

The Lesch-Nyhan syndrome: self-destructive biting, mental retardation, neurological disorder and hyperuricaemia.

M W Partington, B K Hennen.   

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Year:  1967        PMID： 6066021     DOI： 10.1111/j.1469-8749.1967.tb02325.x

Source DB:  PubMed          Journal:  Dev Med Child Neurol        ISSN： 0012-1622            Impact factor:   5.449


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  5 in total

1.  Uric acid levels in serum and C.S.F. in neurological disorders.

Authors:  S D Singh; H C Sepaha; R Vijayvargiyd; B C Chhaparwal; J N Pohowalla
Journal:  Indian J Pediatr       Date:  1970-10       Impact factor: 1.967

2.  Pathological and immunological observations in a case of Lesch-Nyhan-syndrome.

Authors:  R Bassermann; W Gutensohn; H Jahn; J S Springmann
Journal:  Eur J Pediatr       Date:  1979-10       Impact factor: 3.183

3.  Differential diagnosis of cerebral palsy: Lesch-Nyhan syndrome without self-mutilation.

Authors:  G Mitchell; R R McInnes
Journal:  Can Med Assoc J       Date:  1984-05-15       Impact factor: 8.262

Review 4.  Delineation of the motor disorder of Lesch-Nyhan disease.

Authors:  H A Jinnah; Jasper E Visser; James C Harris; Alfonso Verdu; Laura Larovere; Irene Ceballos-Picot; Pedro Gonzalez-Alegre; Vladimir Neychev; Rosa J Torres; Olivier Dulac; Isabelle Desguerre; David J Schretlen; Kenneth L Robey; Gabor Barabas; Bastiaan R Bloem; William Nyhan; Raquel De Kremer; Gary E Eddey; Juan G Puig; Stephen G Reich
Journal:  Brain       Date:  2006-03-20       Impact factor: 13.501

5.  Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia.

Authors:  Mark Stevenson; Alistair T Pagnamenta; Silvia Reichart; Charlotte Philpott; Kate E Lines; Caroline M Gorvin; Karl Lhotta; Jenny C Taylor; Rajesh V Thakker
Journal:  Am J Med Genet A       Date:  2020-08-09       Impact factor: 2.578
  5 in total

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