Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences-Reference-Cited by-同舟云学术

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences

Published:2017-02-15 Issue:3 Volume:40 Page:423-431
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Wortmann Saskia B., ,Chen Margaret A.,Colombo Roberto,Pontoglio Alessandro,Alhaddad Bader,Botto Lorenzo D.,Yuzyuk Tatiana,Coughlin Curtis R.,Descartes Maria,Grűnewald Stephanie,Maranda Bruno,Mills Philippa B.,Pitt James,Potente Catherine,Rodenburg Richard,Kluijtmans Leo A. J.,Sampath Srirangan,Pai Emil F.,Wevers Ron A.,Tiller George E.

Funder

Paracelsus Medical University

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-017-0015-9.pdf

Reference20 articles.

1. Alvarado CS, Livingstone LR, Jones ME, Ravielle A, McKolanis J, Elsas LJ (1988) Uridine-responsive hypogammaglobulinemia and congenital heart disease in a patient with hereditary orotic aciduria. J Pediatr 113:867–871

2. Bailey CJ (2009) Orotic aciduria and uridine monophosphate synthase: a reappraisal. J Inherit Metab Dis 32(Suppl 1):S227–233

3. Balasubramaniam S, Duley JA, Christodoulou J (2014) Inborn errors of pyrimidine metabolism: clinical update and therapy. J Inherit Metab Dis 37:687–698