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.

Additional Metadata
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 hdl.handle.net/1765/128273
Note For copyright reasons there is a partial embargo for this dissertation
Organisation Center for Lysosomal and Metabolic Diseases
Citation
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 http://hdl.handle.net/1765/128273