Sharpening the Molecular Scissors: Advances in Gene-Editing Technology by Mike Broeders, Pablo Herrero-Hernandez, Martijn P.T. Ernst, Ans T. van der Ploeg, W.W.M. Pim Pijnappel

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Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease by Erik van der Wal, Atze J. Bergsma, Joon M. Pijnenburg, Ans T. van der Ploeg, W.W.M. Pim Pijnappel

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Ready for Repair? Gene Editing Enters the Clinic for the Treatment of Human Disease by Martijn P.T. Ernst, Mike Broeders, Pablo Herrero-Hernandez, Esmee Oussoren, Ans T. van der Ploeg, W.W.M. Pim Pijnappel

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Positive association between physical outcomes and patient-reported outcomes in late-onset Pompe disease: a cross sectional study by Meng Yuan, Eleni-Rosalina Andrinopoulou, Michelle E. Kruijshaar, Aglina Lika, Laurike Harlaar, Ans T. van der Ploeg, Dimitris Rizopoulos, Nadine A. M. E. van der Beek

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Enzyme replacement therapy reduces the risk for wheelchair dependency in adult Pompe patients by Jan C. van der Meijden, Michelle E. Kruijshaar, Dimitris Rizopoulos, Pieter A. van Doorn, Nadine A. M. E. van der Beek, Ans T. van der Ploeg

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Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study by Imke A. M. Ditters, Nadine A. M. E. van der Beek, Esther Brusse, Ans T. van der Ploeg, Johanna M. P. van den Hout, Hidde H. Huidekoper

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Quantification of Diaphragm Mechanics in Pompe Disease Using Dynamic 3D MRI. by Katja Mogalle, Adria Perez-Rovira, Pierluigi Ciet, Stephan C A Wens, Pieter A van Doorn, Harm A W M Tiddens, Ans T van der Ploeg, Marleen de Bruijne

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A Generic Assay to Detect Aberrant ARSB Splicing and mRNA Degradation for the Molecular Diagnosis of MPS VI by Mike Broeders, Kasper Smits, Busra Goynuk, Esmee Oussoren, Hannerieke J.M.P. van den Hout, Atze J. Bergsma, Ans T. van der Ploeg, W.W.M. Pim Pijnappel

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Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review by Imke A. M. Ditters, Harmke A. van Kooten, Nadine A. M. E. van der Beek, Ans T. van der Ploeg, Hidde H. Huidekoper, Johanna M. P. van den Hout

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Orofacial abnormalities in mucopolysaccharidosis and mucolipidosis type II and III: A systematic review by Chiel J. deBode, Emma J. Dogterom, Antoinette V. J. Rozeboom, Janneke J. Langendonk, Eppo B. Wolvius, Ans T. van derPloeg, Esmée Oussoren, Margreet A. E. M. Wagenmakers

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Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in adult patients with Pompe disease by Tim A. Kanters, Ans T. van der Ploeg, Michelle E. Kruijshaar, Dimitris Rizopoulos, W. Ken Redekop, Maureen P. M. H. Rutten-van Mӧlken, Leona Hakkaart-van Roijen

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Long-term benefits of physical activity in adult patients with late onset Pompe disease: a retrospective cohort study with 10 years of follow-up by Gamida Ismailova, Margreet A. E. M. Wagenmakers, Esther Brusse, Ans T. van der Ploeg, Marein M. Favejee, Nadine A. M. E. van der Beek, Linda E. M. van den Berg

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Real-world evidence for Pompe disease remains fragmented. Comment on “A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on... by Michelle E. Kruijshaar, Tiffany House, Benedikt Schoser, Pascal Laforêt, Maudy T. M. Theunissen, Stephan Wenninger, Thomas Hundsberger, Jordi Diaz-Manera, Ans T. van der Ploeg, Nadine A. M. E. van der Beek

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IGF2-tagging of GAA promotes full correction of murine Pompe disease at a clinically relevant dosage of lentiviral gene therapy by Qiushi Liang, Fabio Catalano, Eva C. Vlaar, Joon M. Pijnenburg, Merel Stok, Yvette van Helsdingen, Arnold G. Vulto, Ans T. van der Ploeg, Niek P. van Til, W.W.M. Pim Pijnappel

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A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses. by Eveline J Langereis, Tom Wagemans, Wim Kulik, Dirk J Lefeber, Henk van Lenthe, Esmee Oussoren, Ans T van der Ploeg, George J Ruijter, Ron A Wevers, Frits A Wijburg, Naomi van Vlies

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Using Out-of-Batch Reference Populations to Improve Untargeted Metabolomics for Screening Inborn Errors of Metabolism by Michiel Bongaerts, Ramon Bonte, Serwet Demirdas, Edwin H. Jacobs, Esmee Oussoren, Ans T. van der Ploeg, Margreet A. E. M. Wagenmakers, Robert M. W. Hofstra, Henk J. Blom, Marcel J. T. Reinders, George J. G. Ruijter

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GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells by Erik van der Wal, Atze J. Bergsma, Tom J.M. van Gestel, Stijn L.M. in ‘t Groen, Holm Zaehres, Marcos J. Araúzo-Bravo, Hans R. Schöler, Ans T. van der Ploeg, W.W.M. Pim Pijnappel

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Lentiviral gene therapy prevents anti-human acid α-glucosidase antibody formation in murine Pompe disease by Qiushi Liang, Eva C. Vlaar, Fabio Catalano, Joon M. Pijnenburg, Merel Stok, Yvette van Helsdingen, Arnold G. Vulto, Wendy W.J. Unger, Ans T. van der Ploeg, W.W.M. Pim Pijnappel, Niek P. van Til

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Health-Related Quality of Life and Fatigue in Children with Pompe Disease by Linda E. Scheffers, Karolijn Dulfer, PhD, Charlotte Lanser, Maarten Mackenbach, MD, Ans T. van der Ploeg, MD, PhD, Johanna M.P. van den Hout, MD, PhD, Linda E. van den Berg, MD, PhD

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Hearing loss in infantile Pompe's disease and determination of underlying pathology in the knockout mouse by Joep H.J Kamphoven, Martijn M de Ruiter, Leon P.F Winkel, Hannerieke M.P Van den Hout, Jan Bijman, Chris I De Zeeuw, Hans L Hoeve, Bert A Van Zanten, Ans T Van der Ploeg, Arnold J.J Reuser

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