Infantile-onset Pompe disease complicated by sickle cell anemia: Case report and management considerations

por Starosta, Rodrigo Tzovenos, Hou, Ying-Chen Claire, Leestma, Katelyn, Singh, Prapti, Viehl, Luke, Manwaring, Linda, Granadillo, Jorge Luis, Schroeder, Molly C., Colombo, Jamie N., Whitehead, Halana, Dickson, Patricia Irene, Hulbert, Monica L., Nguyen, Hoanh Thi
Publicado 2022

PTPN4 germline variants result in aberrant neurodevelopment and growth

por Chmielewska, Joanna J., Burkardt, Deepika, Granadillo, Jorge Luis, Slaugh, Rachel, Morgan, Shamile, Rotenberg, Joshua, Keren, Boris, Mignot, Cyril, Escobar, Luis, Turnpenny, Peter, Zuteck, Melissa, Seaver, Laurie H., Ploski, Rafal, Dziembowska, Magdalena, Wynshaw-Boris, Anthony, Adegbola, Abidemi
Publicado 2021