Ontology highlight
ABSTRACT:
SUBMITTER: Keutzer JM
PROVIDER: S-EPMC7570269 | biostudies-literature | 2020 Sep
REPOSITORIES: biostudies-literature
International journal of neonatal screening 20200705 3
When clinical trials for enzyme replacement therapy for Pompe disease commenced, a need for newborn screening (NBS) for Pompe disease was recognized. Two methods for NBS for Pompe disease by measuring acid α-glucosidase in dried blood spots on filter paper were developed in an international collaborative research effort led by Genzyme. Both methods were used successfully in NBS pilot programs to demonstrate the feasibility of NBS for Pompe disease. Since 2009, all babies born in Taiwan have been ...[more]