Literature DB >> 5503686

The urinary excretion of aminoimidazolecarboxamide in the Lesch-Nyhan syndrome.

D S Newcombe.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1970        PMID： 5503686

Source DB:  PubMed          Journal:  Pediatrics        ISSN： 0031-4005            Impact factor:   7.124


× No keyword cloud information.
  4 in total

1.  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

2.  Z-nucleotide accumulation in erythrocytes from Lesch-Nyhan patients.

Authors:  Y Sidi; B S Mitchell
Journal:  J Clin Invest       Date:  1985-12       Impact factor: 14.808

3.  Mass spectrometric analysis of purine de novo biosynthesis intermediates.

Authors:  Lucie Mádrová; Matyáš Krijt; Veronika Barešová; Jan Václavík; David Friedecký; Dana Dobešová; Olga Součková; Václava Škopová; Tomáš Adam; Marie Zikánová
Journal:  PLoS One       Date:  2018-12-10       Impact factor: 3.240

4.  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
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.