The findings described in this thesis are a step forward in the diagnosis and understanding of Pompe disease with emphasis on the genotype-phenotype correlation.

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A.T. van der Ploeg (Ans) , R.M.W. Hofstra (Robert) , W.W.M.P. Pijnappel (Pim)
Erasmus University Rotterdam
Center for Lysosomal and Metabolic Diseases

Martinez, M.Y.N. (2020, July 7). The Genotype-Phenotype Correlation in Pompe Disease Studied from an Enzymatic and Molecular Perspective. Erasmus University Rotterdam. Retrieved from