List of works by Pim Pijnappel

A generic assay for the identification of splicing variants that induce nonsense-mediated decay in Pompe disease

scientific article published on 09 November 2020

Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience

scientific article published on 08 November 2020

Extension of the Pompe mutation database by linking disease-associated variants to clinical severity

scientific article published on 29 July 2019

Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype.

scientific article published on 25 May 2017

Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy.

scientific article

Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease

scientific article published on 7 November 2018

The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease

scientific article published in PLoS ONE

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