Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses and -Type 2 Neuronal Ceroid Lipoduscinosis

Por Liu, Yang, Yi, Fan, Kumar, Arun Babu, Chennamaneni, Naveen Kumar, Hong, Xinying, Scott, C. Ronald, Gelb, Michael H, Turecek, Frantisek
Publicado no Clin Chem (2017)

Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease

Por Lin, Na, Huang, Jingyu, Violante, Sara, Orsini, Joseph J., Caggana, Michele, Hughes, Erin E., Stevens, Colleen, DiAntonio, Lisa, Liao, Hsuan Chieh, Hong, Xinying, Ghomashchi, Farideh, Kumar, Arun Babu, Zhou, Hui, Kornreich, Ruth, Wasserstein, Melissa, Gelb, Michael H., Yu, Chunli
Publicado no Clin Chem (2017)