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2.Elevated plasma dihydroorotate in Miller syndrome: Biochemical, diagnostic and clinical implications, and treatment with uridine
作者:John A. Duleya ; jduley@pharmacy.uq.edu.au" class="auth_mail" title="E-mail the corresponding author ; Michael G. Henmanb ; michael.henman@mater.org.au" class="auth_mail" title="E-mail the corresponding author ; Kevin H. Carpenterc ; kevin.carpenter@health.nsw.gov.au" class="auth_mail" title="E-mail the corresponding author ; Michael J. Bamshadd ; mbamshad@u.washington.edu" class="auth_mail" title="E-mail the corresponding author ; George A. Marshalle ; george.marshall@mater.org.au" class="auth_mail" title="E-mail the corresponding author ; Chee Y. Ooif ; i ; keith.ooi@unsw.edu.au" class="auth_mail" title="E-mail the corresponding author ; Bridget Wilckeng ; bridget.wilcken@health.nsw.gov.au" class="auth_mail" title="E-mail the corresponding author ; Jason R. Pinnerh ; jason.pinner@sswahs.nsw.gov.au" class="auth_mail" title="E-mail the corresponding author
刊名:Molecular Genetics and Metabolism
出版年:2016
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