Literature DB >> 10503694

Asymptomatic alpha-ketoadipic aciduria detected during a pilot study of neonatal urine screening.

H Peng1, T Shinka, Y Inoue, H Mitsubuchi, J Ishimatsu, M Yoshino, T Kuhara.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1999        PMID： 10503694     DOI： 10.1080/08035259950168874

Source DB:  PubMed          Journal:  Acta Paediatr        ISSN： 0803-5253            Impact factor:   2.299


× No keyword cloud information.
  4 in total

1.  A study on alpha-ketoadipic aciduria by gas chromatographic-mass spectrometry.

Authors:  Zhen-Wei Xia; Yoshito Inoue; Morimasa Ohse; Toshihiro Shinka; Tomiko Kuhara
Journal:  World J Gastroenterol       Date:  2000-10       Impact factor: 5.742

2.  A Korean girl with alpha-aminoadipic and alpha-ketoadipic aciduria accompanied with elevation of 2-hydroxyglutarate and glutarate.

Authors:  J S Lee; H R Yoon; C J Coe
Journal:  J Inherit Metab Dis       Date:  2001-08       Impact factor: 4.982

3.  Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria.

Authors:  Jacob Hagen; Heleen te Brinke; Ronald J A Wanders; Alida C Knegt; Esmee Oussoren; A Jeannette M Hoogeboom; George J G Ruijter; Daniel Becker; Karl Otfried Schwab; Ingo Franke; Marinus Duran; Hans R Waterham; Jörn Oliver Sass; Sander M Houten
Journal:  J Inherit Metab Dis       Date:  2015-04-10       Impact factor: 4.982

Review 4.  Lipoic acid biosynthesis defects.

Authors:  Johannes A Mayr; René G Feichtinger; Frederic Tort; Antonia Ribes; Wolfgang Sperl
Journal:  J Inherit Metab Dis       Date:  2014-04-29       Impact factor: 4.982
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.