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

gan Seppälä, Eija H., Reuser, Arnold J. J., Lohi, Hannes
Cyhoeddwyd 2013

Introduction of a viral thymidine kinase gene and the human β-globin gene into developmentally multipotential mouse teratocarcinoma cells

gan Pellicer, Angel, Wagner, Erwin F., Kareh, Adele El, Dewey, Michael J., Reuser, Arnold J., Silverstein, Saul, Axel, Richard, Mintz, Beatrice
Cyhoeddwyd 1980

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

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

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

gan van Gelder, Carin M., Hoogeveen-Westerveld, Marianne, Kroos, Marian A., Plug, Iris, van der Ploeg, Ans T., Reuser, Arnold J. J.
Cyhoeddwyd yn J Inherit Metab Dis (2014)

Hearing in adults with Pompe disease

gan 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.
Cyhoeddwyd 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

gan 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
Cyhoeddwyd 2012

Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease

gan Niño, Mónica Yasmín, Mateus, Heidi Eliana, Fonseca, Dora Janeth, Kroos, Marian A., Ospina, Sandra Yaneth, Mejía, Juan Fernando, Uribe, Jesús Alfredo, Reuser, Arnold J. J., Laissue, Paul
Cyhoeddwyd 2012

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

gan 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.
Cyhoeddwyd yn J Inherit Metab Dis (2015)

Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase

gan 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
Cyhoeddwyd 2013

Lentiviral Hematopoietic Stem Cell Gene Therapy Corrects Murine Pompe Disease

gan 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
Cyhoeddwyd yn Mol Ther Methods Clin Dev (2020)

Phenotypical variation within 22 families with Pompe disease

gan 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
Cyhoeddwyd 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

gan 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.
Cyhoeddwyd yn Orphanet J Rare Dis (2015)

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

gan 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.
Cyhoeddwyd 2010

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

gan 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
Cyhoeddwyd yn Hum Mutat (2019)