Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease

Priya S. Kishnani, James B. Gibson, Michael J. Gambello, Richard Hillman, David W. Stockton, David Kronn, Nancy D. Leslie, Loren D. M. Pena, Pranoot Tanpaiboon, John W. Day, Raymond Y. Wang, Jennifer L. Goldstein (+4 others)
2019 Genetics in Medicine  
ADVANCE, a uniformly assessed cohort comprising most US children and adolescents with treated Pompe disease, expands understanding of the phenotype and observed variants in the United States.
doi:10.1038/s41436-019-0527-9 pmid:31086307 fatcat:2mfw77quzvc6pjszrvfplephle