Cardiovascular Abnormalities in Late Onset Pompe Disease and Response to Enzyme Replacement Therapy

Por Forsha, Daniel, Li, Jennifer S., Smith, P. Brian, van der Ploeg, Ans T., Kishnani, Priya, Pasquali, Sara K.
Publicado em 2011

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 no Mol Ther Nucleic Acids (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 em 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 no Acta Myol (2015)

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 em 2014

Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deterioration in Mucopolysaccharidosis Type III

Por Welling, Lindsey, Marchal, Jan Pieter, van Hasselt, Peter, van der Ploeg, Ans T., Wijburg, Frits A., Boelens, Jaap Jan
Publicado no JIMD Rep (2014)

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 em 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 em 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 no J Inherit Metab Dis (2014)

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 em 2011

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 em 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 no Orphanet J Rare Dis (2015)

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 em 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 em 2013

Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy

Por Wraith, J. Edmond, Scarpa, Maurizio, Beck, Michael, Bodamer, Olaf A., De Meirleir, Linda, Guffon, Nathalie, Meldgaard Lund, Allan, Malm, Gunilla, Van der Ploeg, Ans T., Zeman, Jiri
Publicado em 2007

Mucopolysaccharidosis: Cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VI

Por Brands, Marion M. M. G., Frohn-Mulder, Ingrid M., Hagemans, Marloes L. C., Hop, Wim C. J., Oussoren, Esmee, Helbing, Wim A., van der Ploeg, Ans T.
Publicado em 2012

Lack of robust satellite cell activation and muscle regeneration during the progression of Pompe disease

Por Schaaf, Gerben J., van Gestel, Tom JM, Brusse, Esther, Verdijk, Robert M., de Coo, Irenaeus FM, van Doorn, Pieter A., van der Ploeg, Ans T., Pijnappel, WWM Pim
Publicado no Acta Neuropathol Commun (2015)

Quantification of Diaphragm Mechanics in Pompe Disease Using Dynamic 3D MRI

Por Mogalle, Katja, Perez-Rovira, Adria, Ciet, Pierluigi, Wens, Stephan C. A., van Doorn, Pieter A., Tiddens, Harm A. W. M., van der Ploeg, Ans T., de Bruijne, Marleen
Publicado no PLoS One (2016)

Enzyme replacement therapy and fatigue in adults with Pompe disease

Por Güngör, Deniz, de Vries, Juna, Brusse, Esther, Kruijshaar, Michelle, van den Berg, Linda, Hop, Wim, Reuser, Arnold, van Doorn, Pieter, Hagemans, Marloes, Plug, Iris, van der Ploeg, Ans
Publicado em 2013

Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up

Por Güngör, Deniz, Kruijshaar, Michelle E., Plug, Iris, Rizopoulos, Dimitris, Kanters, Tim A., Wens, Stephan C. A., Reuser, Arnold J. J., van Doorn, Pieter A., van der Ploeg, Ans T.
Publicado no J Inherit Metab Dis (2015)