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

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

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

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

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

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

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry

por Reuser, Arnold J. J., van der Ploeg, Ans T., Chien, Yin‐Hsiu, Llerena, Juan, Abbott, Mary‐Alice, Clemens, Paula R., Kimonis, Virginia E., Leslie, Nancy, Maruti, Sonia S., Sanson, Bernd‐Jan, Araujo, Roberto, Periquet, Magali, Toscano, Antonio, Kishnani, Priya S., on behalf of the Pompe Registry Sites
Publicado 2019