At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening

by Zoltan Lukacs, Petra Oliva, Paulina Nieves Cobos, Jacob Scott, Thomas P. Mechtler, David C. Kasper
Published 2020-12-01

Improved sensitivity of an acid sphingomyelinase activity assay using a C6:0 sphingomyelin substrate

by Wei-Lien Chuang, Joshua Pacheco, Samantha Cooper, Jonathan S. Kingsbury, John Hinds, Pavlina Wolf, Petra Oliva, Joan Keutzer, Gerald F. Cox, Kate Zhang
Published 2015-06-01