Literature DB >> 7111674

Clinical, post-mortem, biochemical and therapeutic observations on the Lesch-Nyhan syndrome with particular reference to the Neurological manifestations.

R W Watts, E Spellacy, D A Gibbs, J Allsop, R O McKeran, G E Slavin.   

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Year:  1982        PMID: 7111674

Source DB:  PubMed          Journal:  Q J Med        ISSN: 0033-5622


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  27 in total

1.  Lesch-Nyhan syndrome: growth delay, testicular atrophy and a partial failure of the 11 beta-hydroxylation of steroids.

Authors:  R W Watts; R A Harkness; E Spellacy; N F Taylor
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

2.  Regional brain volume abnormalities in Lesch-Nyhan disease and its variants: a cross-sectional study.

Authors:  David J Schretlen; Mark Varvaris; Tiffany E Ho; Tracy D Vannorsdall; Barry Gordon; James C Harris; H A Jinnah
Journal:  Lancet Neurol       Date:  2013-12       Impact factor: 44.182

Review 3.  Advances in the study of inherited metabolic disease.

Authors:  D A Gibbs
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

4.  Family studies of the Lesch-Nyhan syndrome: the use of a restriction fragment length polymorphism (RFLP) closely linked to the disease gene for carrier state and prenatal diagnosis.

Authors:  D A Gibbs; C M Headhouse-Benson; R W Watts
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

Review 5.  Lesch-Nyhan Syndrome: Models, Theories, and Therapies.

Authors:  Scott Bell; Ilaria Kolobova; Liam Crapper; Carl Ernst
Journal:  Mol Syndromol       Date:  2016-09-24

6.  Use of intact erythrocytes in the diagnosis of inherited purine and pyrimidine disorders.

Authors:  L D Fairbanks; H A Simmonds; D R Webster
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

7.  Elevated UTP and CTP content in cultured neurons from HPRT-deficient transgenic mice.

Authors:  S Brosh; P Boer; O Sperling; E Zoref-Shani
Journal:  J Mol Neurosci       Date:  2000 Feb-Apr       Impact factor: 3.444

8.  Sudden death in Lesch-Nyhan disease.

Authors:  Vladimir Kostadinov Neychev; H A Jinnah
Journal:  Dev Med Child Neurol       Date:  2006-11       Impact factor: 5.449

Review 9.  Clinical and biochemical aspects of uric acid overproduction.

Authors:  J García Puig; F A Mateos
Journal:  Pharm World Sci       Date:  1994-04-15

Review 10.  Genotypic and phenotypic spectrum in attenuated variants of Lesch-Nyhan disease.

Authors:  Rong Fu; Chung-Jen Chen; H A Jinnah
Journal:  Mol Genet Metab       Date:  2014-05-28       Impact factor: 4.797

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