Literature DB >> 9501271

Symptomatic ornithine carbamoyltransferase deficiency (point mutation H202P) with normal in vitro activity.

M Staudt1, B Wermuth, P Freisinger, A Hässler, B F Pontz.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1998        PMID： 9501271     DOI： 10.1023/a:1005315531630

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


× No keyword cloud information.
  2 in total

1.  Allopurinol-induced orotidinuria. A test for mutations at the ornithine carbamoyltransferase locus in women.

Authors:  E R Hauser; J E Finkelstein; D Valle; S W Brusilow
Journal:  N Engl J Med       Date:  1990-06-07       Impact factor: 91.245

2.  Mutation of ornithine transcarbamylase (H136R) in a girl with severe intermittent orotic aciduria but normal enzyme activity.

Authors:  S Vella; F Steiner; V Schlumbom; R Zurbrügg; U N Wiesmann; T Schaffner; B Wermuth
Journal:  J Inherit Metab Dis       Date:  1997-08       Impact factor: 4.982
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.