Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences
UMPS杂合子患者轻度乳清酸尿症:一种无临床后果的代谢异常
期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1007/s10545-017-0015-9
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