Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.
Semplicini, Claudio
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
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