Associated Papers
Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.
Kishnani PS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31086307 (PubMed )
Supplement: 41436_2019_527_MOESM5_ESM.docx
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.
Semplicini C et al.
Journal of Inherited Metabolic Disease, 2018
Identification and characterization of aberrant GAA pre-mRNA splicing in pompe disease using a generic approach.
Bergsma AJ et al.
Human Mutation, 2015
Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature.
Remiche G et al.
Journal of Neurology, 2014
Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease.
Niño MY et al.
Jimd Reports, 2013
Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.
Oba-Shinjo SM et al.
Journal of Neurology, 2009
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.
Montalvo AL et al.
Human Mutation, 2006
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