Extended clinical phenotypes and long-term outcomes of phosphoglucomutase-3 deficiency
磷酸葡萄糖变位酶-3缺乏症的扩展临床表型和长期预后
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doi:10.70962/jhi.20250176
Wang, Chen; Patel, Meera; Urban, Amanda; Nelson, Celeste G; DiMaggio, Thomas; Heller, Theo; Cowen, Edward W; Kong, Heidi H; Kenney, Heather A; Santangeli, Enrico; Wang, Yanhan; Toribio-Dionicio, Crhistian; Akar-Ghibril, Nicole; Adeli, Mehdi; Gonzalez, Corina E; Holland, Steven M; Notarangelo, Luigi D; Milner, Joshua D; Lyons, Jonathan J; Freeman, Alexandra F