Literature DB >> 2624181

The spectrum of HPRT deficiency: an update.

T Page1, W L Nyhan.   

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Year:  1989        PMID： 2624181     DOI： 10.1007/978-1-4684-5673-8_20

Source DB:  PubMed          Journal:  Adv Exp Med Biol        ISSN： 0065-2598            Impact factor:   2.622


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  12 in total

1.  Eighteen-year follow-up of a patient with partial hypoxanthine phosphoribosyltransferase deficiency and a new mutation.

Authors:  Alojz Gregoric; Gwenda M Rabelink; Nadja Kokalj Vokac; Natasa Marcun Varda; Boris Zagradisnik
Journal:  Pediatr Nephrol       Date:  2005-06-18       Impact factor: 3.714

Review 2.  Lesch-Nyhan Syndrome: Models, Theories, and Therapies.

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

3.  MicroRNA-mediated dysregulation of neural developmental genes in HPRT deficiency: clues for Lesch-Nyhan disease?

Authors:  Ghiabe-Henri Guibinga; Gorjan Hrustanovic; Kathryn Bouic; Hyder A Jinnah; Theodore Friedmann
Journal:  Hum Mol Genet       Date:  2011-10-31       Impact factor: 6.150

4.  Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene.

Authors:  Rong Fu; H A Jinnah
Journal:  J Biol Chem       Date:  2011-12-07       Impact factor: 5.157

5.  Bone marrow transplantation does not ameliorate the neurologic symptoms in mice deficient in hypoxanthine guanine phosphoribosyl transferase (HPRT).

Authors:  B E Wojcik; H A Jinnah; C E Muller-Sieburg; T Friedmann
Journal:  Metab Brain Dis       Date:  1999-03       Impact factor: 3.584

6.  Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathways.

Authors:  Rong Fu; Diane Sutcliffe; Hong Zhao; Xinyi Huang; David J Schretlen; Steve Benkovic; H A Jinnah
Journal:  Mol Genet Metab       Date:  2014-11-08       Impact factor: 4.797

Review 7.  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

Review 8.  Attenuated variants of Lesch-Nyhan disease.

Authors:  H A Jinnah; Irene Ceballos-Picot; Rosa J Torres; Jasper E Visser; David J Schretlen; Alfonso Verdu; Laura E Laróvere; Chung-Jen Chen; Antonello Cossu; Chien-Hui Wu; Radhika Sampat; Shun-Jen Chang; Raquel Dodelson de Kremer; William Nyhan; James C Harris; Stephen G Reich; Juan G Puig
Journal:  Brain       Date:  2010-02-22       Impact factor: 13.501

Review 9.  Gout, uric acid and purine metabolism in paediatric nephrology.

Authors:  J S Cameron; F Moro; H A Simmonds
Journal:  Pediatr Nephrol       Date:  1993-02       Impact factor: 3.714

Review 10.  A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.

Authors:  D G Sculley; P A Dawson; B T Emmerson; R B Gordon
Journal:  Hum Genet       Date:  1992-11       Impact factor: 4.132
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