Journal article

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

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

Journal of Inherited Metabolic Disease | SPRINGER | Published : 2017