Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation
扩大 DPM2 缺陷型先天性糖基化障碍的临床和代谢表型
期刊:Molecular Genetics and Metabolism
影响因子:3.7
doi:10.1016/j.ymgme.2020.10.007
Silvia Radenkovic, Taylor Fitzpatrick-Schmidt, Seul Kee Byeon, Anil K Madugundu, Mayank Saraswat, Angie Lichty, Sunnie Y W Wong, Stephen McGee, Katharine Kubiak, Anna Ligezka, Wasantha Ranatunga, Yuebo Zhang, Tim Wood, Michael J Friez, Katie Clarkson, Akhilesh Pandey, Julie R Jones, Eva Morava