From Cryptic Toward Canonical Pre-mRNA Splicing in Pompe Disease: a Pipeline for the Development of Antisense Oligonucleotides

por Bergsma, Atze J, in ‘t Groen, Stijn LM, Verheijen, Frans W, van der Ploeg, Ans T, Pijnappel, WWM Pim
Publicado 2016

Impact of enzyme replacement therapy on survival in adults with Pompe disease

por Güngör, Deniz, Kruijshaar, Michelle, Plug, Iris, D’Agostino, Ralph, Hagemans, Marloes, Reuser, Arnold, van der Ploeg, Ans
Publicado 2013

Minutes of the European POmpe Consortium (EPOC) Meeting March 27 to 28, 2015, Munich, Germany

por Schoser, Benedikt, Laforêt, Pascal, Kruijshaar, Michelle E., Toscano, Antonio, van Doorn, Pieter A., van der Ploeg, Ans T.
Publicado 2015

Sharpening the Molecular Scissors: Advances in Gene-Editing Technology

por Broeders, Mike, Herrero-Hernandez, Pablo, Ernst, Martijn P.T., van der Ploeg, Ans T., Pijnappel, W.W.M. Pim
Publicado 2019

Newborn screening for pompe disease? a qualitative study exploring professional views

por van El, Carla G, Rigter, Tessel, Reuser, Arnold JJ, van der Ploeg, Ans T, Weinreich, Stephanie S, Cornel, Martina C
Publicado 2014

Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease

por van der Wal, Erik, Bergsma, Atze J., Pijnenburg, Joon M., van der Ploeg, Ans T., Pijnappel, W.W.M. Pim
Publicado 2017

Ready for Repair? Gene Editing Enters the Clinic for the Treatment of Human Disease

por Ernst, Martijn P.T., Broeders, Mike, Herrero-Hernandez, Pablo, Oussoren, Esmee, van der Ploeg, Ans T., Pijnappel, W.W.M. Pim
Publicado 2020

Hearing loss in Pompe disease revisited: results from a study of 24 children

por van Capelle, Carine I., Goedegebure, Andre, Homans, Nienke C., Hoeve, Hans L. J., Reuser, Arnold J., van der Ploeg, Ans T.
Publicado 2010

Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in classic-infantile patients with Pompe disease

por Kanters, Tim A, Hoogenboom-Plug, Iris, Rutten-Van Mölken, Maureen PMH, Redekop, W Ken, van der Ploeg, Ans T, Hakkaart, Leona
Publicado 2014

Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease

por van Gelder, Carin M., Hoogeveen-Westerveld, Marianne, Kroos, Marian A., Plug, Iris, van der Ploeg, Ans T., Reuser, Arnold J. J.
Publicado 2014

Association of Muscle Strength and Walking Performance in Adult Patients With Pompe Disease

por Favejee, Marein M, van der Meijden, Jan C, Kruijshaar, Michelle E, Rizopoulos, Dimitris, van der Ploeg, Ans T, Bussmann, Johannes B J
Publicado 2018

Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy

por Güngör, Deniz, de Vries, Juna M, Hop, Wim CJ, Reuser, Arnold JJ, van Doorn, Pieter A, van der Ploeg, Ans T, Hagemans, Marloes LC
Publicado 2011

Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy

por van der Meijden, Jan C., Kruijshaar, Michelle E., Harlaar, Laurike, Rizopoulos, Dimitris, van der Beek, Nadine A. M. E., van der Ploeg, Ans T.
Publicado 2018

Burden of illness of Pompe disease in patients only receiving supportive care

por Kanters, Tim A., Hagemans, Marloes L. C., van der Beek, Nadine A. M. E., Rutten, Frans F. H., van der Ploeg, Ans T., Hakkaart, Leona
Publicado 2011

A conceptual disease model for adult Pompe disease

por Kanters, Tim A., Redekop, W. Ken, Rutten-Van Mölken, Maureen P.M.H., Kruijshaar, Michelle E., Güngör, Deniz, van der Ploeg, Ans T., Hakkaart, Leona
Publicado 2015

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

por Bergsma, Atze J., in ’t Groen, Stijn L. M., Catalano, Fabio, Yamanaka, Manjiro, Takahashi, Satoru, Okumiya, Toshika, van der Ploeg, Ans T., Pijnappel, W. W. M. Pim
Publicado 2020

Hearing in adults with Pompe disease

por van der Beek, Nadine A. M. E., Verschuure, Hans, Reuser, Arnold J. J., van der Ploeg, Ans T., van Doorn, Pieter A., Poublon, René M. L.
Publicado 2011

Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study

por Güngör, Deniz, Kruijshaar, Michelle E, Plug, Iris, D’Agostino, Ralph B, Hagemans, Marloes LC, van Doorn, Pieter A, Reuser, Arnold JJ, van der Ploeg, Ans T
Publicado 2013

Enzyme replacement therapy reduces the risk for wheelchair dependency in adult Pompe patients

por van der Meijden, Jan C., Kruijshaar, Michelle E., Rizopoulos, Dimitris, van Doorn, Pieter A., van der Beek, Nadine A. M. E., van der Ploeg, Ans T.
Publicado 2018

Positive association between physical outcomes and patient-reported outcomes in late-onset Pompe disease: a cross sectional study

por Yuan, Meng, Andrinopoulou, Eleni-Rosalina, Kruijshaar, Michelle E., Lika, Aglina, Harlaar, Laurike, van der Ploeg, Ans T., Rizopoulos, Dimitris, van der Beek, Nadine A. M. E.
Publicado 2020