Literature DB >> 5134918

Detailed comparison of the urinary excretion of purines in a patient with the Lesch-Nyhan syndrome and a control subject.

L Sweetman, W L Nyhan.   

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Year:  1970        PMID: 5134918     DOI: 10.1016/0006-2944(70)90089-x

Source DB:  PubMed          Journal:  Biochem Med        ISSN: 0006-2944


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  6 in total

1.  Do clinical features of Lesch-Nyhan disease correlate more closely with hypoxanthine or guanine recycling?

Authors:  David J Schretlen; Wynne Callon; Rebecca E Ward; Rong Fu; Tiffany Ho; Barry Gordon; James C Harris; H A Jinnah
Journal:  J Inherit Metab Dis       Date:  2015-06-12       Impact factor: 4.982

Review 2.  Molecular variation in relation to purine metabolism.

Authors:  R W Watts
Journal:  J Clin Pathol Suppl (R Coll Pathol)       Date:  1974

3.  AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC.

Authors:  Sandrine Marie; Benedicte Heron; Pierre Bitoun; Therese Timmerman; Georges Van Den Berghe; Marie-Francoise Vincent
Journal:  Am J Hum Genet       Date:  2004-04-26       Impact factor: 11.025

4.  Identification of ATIC as a Novel Target for Chemoradiosensitization.

Authors:  Xiangfei Liu; Uma Devi Paila; Sharon N Teraoka; Jocyndra A Wright; Xin Huang; Aaron R Quinlan; Richard A Gatti; Patrick Concannon
Journal:  Int J Radiat Oncol Biol Phys       Date:  2017-09-21       Impact factor: 7.038

5.  Metabolomics reveals signature of mitochondrial dysfunction in diabetic kidney disease.

Authors:  Kumar Sharma; Bethany Karl; Anna V Mathew; Jon A Gangoiti; Christina L Wassel; Rintaro Saito; Minya Pu; Shoba Sharma; Young-Hyun You; Lin Wang; Maggie Diamond-Stanic; Maja T Lindenmeyer; Carol Forsblom; Wei Wu; Joachim H Ix; Trey Ideker; Jeffrey B Kopp; Sanjay K Nigam; Clemens D Cohen; Per-Henrik Groop; Bruce A Barshop; Loki Natarajan; William L Nyhan; Robert K Naviaux
Journal:  J Am Soc Nephrol       Date:  2013-10-10       Impact factor: 10.121

6.  Physiological levels of folic acid reveal purine alterations in Lesch-Nyhan disease.

Authors:  José M López; Esther L Outtrim; Rong Fu; Diane J Sutcliffe; Rosa J Torres; H A Jinnah
Journal:  Proc Natl Acad Sci U S A       Date:  2020-05-19       Impact factor: 11.205

  6 in total

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