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 GibsonMichael J GambelloRichard HillmanDavid W StocktonDavid KronnNancy D LeslieLoren D M PenaPranoot TanpaiboonJohn W DayRaymond Y WangJennifer L GoldsteinKristina An HaackSusan E SparksYang ZhaoSi Houn Hahnnull null

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)

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.

Keyphrases

late onset
replacement therapy
electronic health record
copy number
early onset
dna methylation
artificial intelligence