Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study. [electronic resource]
- Journal of inherited metabolic disease 11 2018
- 937-946 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1573-2665
10.1007/s10545-018-0243-7 doi
Adolescent Adult Age of Onset Aged Child Child, Preschool Cohort Studies Delayed Diagnosis Female France--epidemiology Genetic Association Studies Genetic Predisposition to Disease--genetics Glycogen Storage Disease Type II--epidemiology Humans Male Middle Aged Mutation Young Adult alpha-Glucosidases--genetics