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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Keywords GAA gene, Pompe disease, modifying factors, enzyme activity, GAA variants, clinical heterogeneity, Pompe disease GAA variant database, deferentially gene expression
Promotor A.T. van der Ploeg (Ans) , R.M.W. Hofstra (Robert) , W.W.M.P. Pijnappel (Pim)
Publisher Erasmus University Rotterdam
ISBN 978-94-6402-290-2
Persistent URL
Note For copyright reasons there is a partial embargo for this dissertation
Organisation 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