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

BACKGROUND: Elevated urinary excretion of orotic acid is associated with treatable disorders of the urea cycle and pyrimidine metabolism. Establishing the correct and timely diagnosis in a patient with orotic aciduria is key to effective treatment. Uridine monophosphate synthase is involved in de no...

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Publicat a:J Inherit Metab Dis
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Springer Netherlands 2017
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Original Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5393157/
https://ncbi.nlm.nih.gov/pubmed/28205048
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-017-0015-9
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