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Open Access
Peer-reviewed
Research Article
The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease
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Esther Kuperus ,
Contributed equally to this work with: Esther Kuperus, Jan C. van der Meijden
Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Validation, Visualization, Writing – original draft, Writing – review & editing
Affiliations Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands, Department of Neurology, Erasmus MC University Medical Center, Rotterdam, the Netherlands
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Jan C. van der Meijden ,
Contributed equally to this work with: Esther Kuperus, Jan C. van der Meijden
Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Validation, Visualization, Writing – original draft, Writing – review & editing
Affiliations Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands, Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, the Netherlands
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Stijn L. M. in ’t Groen,
Roles Data curation, Investigation, Validation, Writing – review & editing
Affiliations Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands, Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, the Netherlands, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands
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Marian A. Kroos,
Roles Data curation, Investigation, Methodology, Writing – review & editing
Affiliations Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands, Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, the Netherlands, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands
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Marianne Hoogeveen-Westerveld,
Roles Data curation, Investigation, Methodology, Validation, Writing – review & editing
Affiliations Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands, Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, the Netherlands, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands
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Dimitris Rizopoulos,
Roles Methodology, Supervision, Writing – review & editing
Affiliation Department of Biostatistics, Erasmus MC University Medical Center, Rotterdam, the Netherlands
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Monica Yasmin Nino Martinez,
Roles Data curation, Investigation, Methodology, Writing – review & editing
Affiliations Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands, Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, the Netherlands, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands
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Michelle E. Kruijshaar,
Roles Conceptualization, Data curation, Methodology, Supervision, Writing – review & editing
Affiliations Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands, Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, the Netherlands
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Pieter A. van Doorn,
Roles Conceptualization, Methodology, Supervision, Writing – review & editing
Affiliations Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands, Department of Neurology, Erasmus MC University Medical Center, Rotterdam, the Netherlands
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Nadine A. M. E. van der Beek ,
Roles Conceptualization, Methodology, Supervision, Writing – review & editing
* E-mail: w.pijnappel@erasmusmc.nl (WP); n.beek@erasmusmc.nl (NvdB)
Affiliations Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands, Department of Neurology, Erasmus MC University Medical Center, Rotterdam, the Netherlands
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Ans T. van der Ploeg,
Roles Conceptualization, Methodology, Supervision, Writing – review & editing
Affiliations Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands, Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, the Netherlands
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W. W. M. Pim Pijnappel
Roles Conceptualization, Funding acquisition, Investigation, Supervision, Writing – original draft, Writing – review & editing
* E-mail: w.pijnappel@erasmusmc.nl (WP); n.beek@erasmusmc.nl (NvdB)
Affiliations Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands, Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, the Netherlands, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands
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The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease
- Esther Kuperus,
- Jan C. van der Meijden,
- Stijn L. M. in ’t Groen,
- Marian A. Kroos,
- Marianne Hoogeveen-Westerveld,
- Dimitris Rizopoulos,
- Monica Yasmin Nino Martinez,
- Michelle E. Kruijshaar,
- Pieter A. van Doorn,
- Nadine A. M. E. van der Beek
- Published: December 7, 2018
- https://doi.org/10.1371/journal.pone.0208854