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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2017
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5393157/
https://www.ncbi.nlm.nih.gov/pubmed/28205048
http://dx.doi.org/10.1007/s10545-017-0015-9

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