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

Pubmed ID: 
28205048
Year: 
2017
Month: 
May
Volume: 
40
Issue: 
3
Citation: 
Wortmann SB, Chen MA, Colombo R, Pontoglio A, Alhaddad B, Botto LD, Yuzyuk T, Coughlin CR, Descartes M, Grűnewald S, Maranda B, Mills PB, Pitt J, Potente C, Rodenburg R, Kluijtmans LA, Sampath S, Pai EF, Wevers RA, Tiller GE, and additional individual contributors. Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences. JOURNAL OF INHERITED METABOLIC DISEASE 40 (3) : 423 - 431(2017) PubMed