Literature DB >> 1664177

Identification of distinct PRS1 mutations in two patients with X-linked phosphoribosylpyrophosphate synthetase superactivity.

B J Roessler1, N Golovoy, T D Palella, S Heidler, M A Becker.   

Abstract

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Year:  1991        PMID： 1664177     DOI： 10.1007/978-1-4615-7703-4_28

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


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  9 in total

Review 1.  Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing.

Authors:  Marie Coutelier; Giovanni Stevanin; Alexis Brice
Journal:  J Neurol       Date:  2015-04-11       Impact factor: 4.849

Review 2.  PRPS1 mutations: four distinct syndromes and potential treatment.

Authors:  Arjan P M de Brouwer; Hans van Bokhoven; Sander B Nabuurs; Willem Frans Arts; John Christodoulou; John Duley
Journal:  Am J Hum Genet       Date:  2010-04-09       Impact factor: 11.025

Review 3.  Clinical and biochemical aspects of uric acid overproduction.

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

Review 4.  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 5.  Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy.

Authors:  Xue Zhong Liu; Dinghua Xie; Hui Jun Yuan; Arjan P M de Brouwer; John Christodoulou; Denise Yan
Journal:  Int J Audiol       Date:  2012-11-28       Impact factor: 2.117

Review 6.  New developments in the epidemiology and genetics of gout.

Authors:  Raihana Zaka; Charlene J Williams
Journal:  Curr Rheumatol Rep       Date:  2006-06       Impact factor: 4.686

Review 7.  Association of PRPS1 Mutations with Disease Phenotypes.

Authors:  Rahul Mittal; Kunal Patel; Jeenu Mittal; Brandon Chan; Denise Yan; M'hamed Grati; Xue Zhong Liu
Journal:  Dis Markers       Date:  2015-05-24       Impact factor: 3.434

Review 8.  Contribution of Model Organisms to Investigating the Far-Reaching Consequences of PRPP Metabolism on Human Health and Well-Being.

Authors:  Eziuche A Ugbogu; Lilian M Schweizer; Michael Schweizer
Journal:  Cells       Date:  2022-06-13       Impact factor: 7.666

Review 9.  PRPS-Associated Disorders and the Drosophila Model of Arts Syndrome.

Authors:  Keemo Delos Santos; Eunjeong Kwon; Nam-Sung Moon
Journal:  Int J Mol Sci       Date:  2020-07-08       Impact factor: 5.923
  9 in total

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