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

    Pompe disease (PD) is caused by a deficiency of lysosomal acid α-glucosidase resulting from mutations in the GAA gene. The clinical spectrum ranges from a rapidly fatal multisystemic disorder (classic PD, onset <...

    Claudio Semplicini, Pascaline Letard… in Journal of Inherited Metabolic Disease (2018)