Genotype-phenotype: correlations and emerging spectrum

por Reuser, Arnold
Publicado 2013

Future therapeutic options

por Reuser, Arnold
Publicado 2013

A Nonsense Mutation in the Acid α-Glucosidase Gene Causes Pompe Disease in Finnish and Swedish Lapphunds

por Seppälä, Eija H., Reuser, Arnold J. J., Lohi, Hannes
Publicado 2013

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

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

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

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

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

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

A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations

por Herzog, Andreas, Hartung, Ralf, Reuser, Arnold J J, Hermanns, Pia, Runz, Heiko, Karabul, Nesrin, Gökce, Seyfullah, Pohlenz, Joachim, Kampmann, Christoph, Lampe, Christina, Beck, Michael, Mengel, Eugen
Publicado 2012

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 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 2015

Public support for neonatal screening for Pompe disease, a broad-phenotype condition

por Weinreich, Stephanie Shifra, Rigter, Tessel, van El, Carla Geertruida, Dondorp, Wybo Jan, Kostense, Pieter Johannes, van der Ploeg, Ans T, Reuser, Arnold JJ, Cornel, Martina Cornelia, Hagemans, Marloes Louise Catharina
Publicado 2012

Effects of exercise training in 23 adults with Pompe disease receiving enzyme therapy

por van den Berg, Linda, Favejee, Marein, Wens, Stephan, Kruijshaar, Michelle, Karstens, Francois, Rozenberg, Robert, Praet, Stephan, Reuser, Arnold, Pijnappel, Pim, Bussmann, Johannes, van Doorn, Pieter, Kuipers, Harm, van der Ploeg, Ans
Publicado 2013

Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase

por Brands, Marion M, Hoogeveen-Westerveld, Marianne, Kroos, Marian A, Nobel, Willemieke, Ruijter, George J, Özkan, Lale, Plug, Iris, Grinberg, Daniel, Vilageliu, Lluïsa, Halley, Dicky J, Ploeg, Ans T van der, Reuser, Arnold J
Publicado 2013

Lentiviral Hematopoietic Stem Cell Gene Therapy Corrects Murine Pompe Disease

por Stok, Merel, de Boer, Helen, Huston, Marshall W., Jacobs, Edwin H., Roovers, Onno, Visser, Trudi P., Jahr, Holger, Duncker, Dirk J., van Deel, Elza D., Reuser, Arnold J.J., van Til, Niek P., Wagemaker, Gerard
Publicado 2020

Phenotypical variation within 22 families with Pompe disease

por Wens, Stephan C A, van Gelder, Carin M, Kruijshaar, Michelle E, de Vries, Juna M, van der Beek, Nadine A M E, Reuser, Arnold J J, van Doorn, Pieter A, van der Ploeg, Ans T, Brusse, Esther
Publicado 2013

Safety and efficacy of exercise training in adults with Pompe disease: evalution of endurance, muscle strength and core stability before and after a 12 week training program

por van den Berg, Linda E. M., Favejee, Marein M., Wens, Stephan C. A., Kruijshaar, Michelle E., Praet, Stephan F. E., Reuser, Arnold J. J., Bussmann, Johannes B. J., van Doorn, Pieter A., van der Ploeg, Ans T.
Publicado 2015

PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease

por Hagemans, Marloes L. C., Stigter, Rolinda L., van Capelle, Carine I., van der Beek, Nadine A. M. E., Winkel, Leon P. F., van Vliet, Laura, Hop, Wim C. J., Reuser, Arnold J. J., Beishuizen, Auke, van der Ploeg, Ans T.
Publicado 2010