Sökresultat - van der Ploeg, Ans

Cardiovascular Abnormalities in Late Onset Pompe Disease and Response to Enzyme Replacement Therapy av Forsha, Daniel, Li, Jennifer S., Smith, P. Brian, van der Ploeg, Ans T., Kishnani, Priya, Pasquali, Sara K.

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From Cryptic Toward Canonical Pre-mRNA Splicing in Pompe Disease: a Pipeline for the Development of Antisense Oligonucleotides av Bergsma, Atze J, in ‘t Groen, Stijn LM, Verheijen, Frans W, van der Ploeg, Ans T, Pijnappel, WWM Pim

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Impact of enzyme replacement therapy on survival in adults with Pompe disease av Güngör, Deniz, Kruijshaar, Michelle, Plug, Iris, D’Agostino, Ralph, Hagemans, Marloes, Reuser, Arnold, van der Ploeg, Ans

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Minutes of the European POmpe Consortium (EPOC) Meeting March 27 to 28, 2015, Munich, Germany av Schoser, Benedikt, Laforêt, Pascal, Kruijshaar, Michelle E., Toscano, Antonio, van Doorn, Pieter A., van der Ploeg, Ans T.

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

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Newborn screening for pompe disease? a qualitative study exploring professional views av van El, Carla G, Rigter, Tessel, Reuser, Arnold JJ, van der Ploeg, Ans T, Weinreich, Stephanie S, Cornel, Martina C

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Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deterioration in Mucopolysaccharidosis Type III av Welling, Lindsey, Marchal, Jan Pieter, van Hasselt, Peter, van der Ploeg, Ans T., Wijburg, Frits A., Boelens, Jaap Jan

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

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

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Hearing loss in Pompe disease revisited: results from a study of 24 children av van Capelle, Carine I., Goedegebure, Andre, Homans, Nienke C., Hoeve, Hans L. J., Reuser, Arnold J., van der Ploeg, Ans T.

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Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in classic-infantile patients with Pompe disease av Kanters, Tim A, Hoogenboom-Plug, Iris, Rutten-Van Mölken, Maureen PMH, Redekop, W Ken, van der Ploeg, Ans T, Hakkaart, Leona

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Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease av van Gelder, Carin M., Hoogeveen-Westerveld, Marianne, Kroos, Marian A., Plug, Iris, van der Ploeg, Ans T., Reuser, Arnold J. J.

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Restoring the regenerative balance in neuromuscular disorders: satellite cell activation as therapeutic target in Pompe disease av Schaaf, Gerben J., Canibano-Fraile, Rodrigo, van Gestel, Tom J. M., van der Ploeg, Ans T., Pijnappel, W. W. M. Pim

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Association of Muscle Strength and Walking Performance in Adult Patients With Pompe Disease av Favejee, Marein M, van der Meijden, Jan C, Kruijshaar, Michelle E, Rizopoulos, Dimitris, van der Ploeg, Ans T, Bussmann, Johannes B J

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Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy av Güngör, Deniz, de Vries, Juna M, Hop, Wim CJ, Reuser, Arnold JJ, van Doorn, Pieter A, van der Ploeg, Ans T, Hagemans, Marloes LC

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Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy av van der Meijden, Jan C., Kruijshaar, Michelle E., Harlaar, Laurike, Rizopoulos, Dimitris, van der Beek, Nadine A. M. E., van der Ploeg, Ans T.

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

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A conceptual disease model for adult Pompe disease av 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

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

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Hearing in adults with Pompe disease av 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.

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