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1

Both type 1 and type 2a muscle fibers can respond to enzyme therapy in Pompe disease

Maarten R. Drost, Gert Schaart, Paul van Dijk, Carine I. van Capelle, Ger J. van Der Vusse, Tammo Delhaas, Ans T. van Der Ploeg, Arnold J. J. Reuser

Journal:

Year:

2008

Language:

english

File:

PDF, 204 KB

english, 2008

2

Glycogen storage disease type II: Genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry

Monique M. P. Hermans, Marian A. Kroos, Jan A. M. Smeitink, Ans T. van der Ploeg, Wim J. Kleijer, Arnold J. J. Reuser

Journal:

Year:

1998

Language:

english

File:

PDF, 192 KB

english, 1998

3

Hearing in adults with Pompe disease

Nadine A. M. E. van der Beek, Hans Verschuure, Arnold J. J. Reuser, Ans T. van der Ploeg, Pieter A. van Doorn, René M. L. Poublon

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 882 KB

english, 2012

4

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

van Gelder, Carin M., Hoogeveen-Westerveld, Marianne, Kroos, Marian A., Plug, Iris, van der Ploeg, Ans T., Reuser, Arnold J. J.

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 405 KB

english, 2015

5

Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy

Deniz Güngör, Juna M de Vries, Wim CJ Hop, Arnold JJ Reuser, Pieter A van Doorn, Ans T van der Ploeg, Marloes LC Hagemans

Journal:

Orphanet Journal of Rare Diseases

Year:

2011

Language:

english

File:

PDF, 350 KB

english, 2011

6

Pompe's disease

Ans T van der Ploeg, Arnold JJ Reuser

Journal:

Year:

2008

Language:

english

File:

PDF, 525 KB

english, 2008

7

Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy

Léon P. F. Winkel, Joep H. J. Kamphoven, Hannerieke J. M. P. Van Den Hout, Lies A. Severijnen, Pieter A. Van Doorn, Arnold J. J. Reuser, Ans T. Van Der Ploeg

Journal:

Year:

2003

Language:

english

File:

PDF, 621 KB

english, 2003

8

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

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,

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 714 KB

english, 2015

9

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

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

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 412 KB

english, 2012

10

Genotype-phenotype correlation in adult-onset acid maltase deficiency

Dr John H. J. Wokke, Margreet G. E. M. Ausems, Marie-José H. van den Boogaard, Elly F. Ippel, Otto van Diggelen, Marian A. Kroos, Marijke Boer, Frans G. I. Jennekens, Arnold J. J. Reuser, Hans Kristia

Journal:

Annals of Neurology

Year:

1995

Language:

english

File:

PDF, 508 KB

english, 1995

11

Treatment options for lysosomal storage disorders: developing insights

van Gelder, Carin M, Vollebregt, Audrey AM, Plug, Iris, van der Ploeg, Ans T, Reuser, Arnold JJ

Journal:

Expert Opinion on Pharmacotherapy

Year:

2012

Language:

english

File:

PDF, 536 KB

english, 2012

12

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

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

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 265 KB

english, 2012

13

Phenotypical variation within 22 families with Pompe disease

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

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 190 KB

english, 2013

14

Genotype-phenotype: correlations and emerging spectrum

Journal:

BMC Musculoskeletal Disorders

Year:

2013

Language:

english

File:

PDF, 73 KB

english, 2013

15

Impaired performance of skeletal muscle in α-glucosidase knockout mice

Reinout P. Hesselink, Marchel Gorselink, Gert Schaart, Anton J.M. Wagenmakers, Joep Kamphoven, Arnold J.J. Reuser, Ger J. Van der Vusse, Maarten R. Drost

Journal:

Year:

2002

Language:

english

File:

PDF, 2.97 MB

english, 2002

16

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

Marian Kroos, Marianne Hoogeveen-Westerveld, Helen Michelakakis, Robert Pomponio, Ans Van der Ploeg, Dicky Halley, Arnold Reuser, GAA Database Consortium:, Persephone Augoustides-Savvopoulou, Margreet

Journal:

Year:

2012

Language:

english

File:

PDF, 148 KB

english, 2012

17

Future therapeutic options

Journal:

BMC Musculoskeletal Disorders

Year:

2013

Language:

english

File:

PDF, 72 KB

english, 2013

18

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

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

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 149 KB

english, 2010

19

l-alanine supplementation in late infantile glycogen storage disease type II

Olaf A Bodamer, Dorothea Haas, Monique M Hermans, Arnold J Reuser, Georg F Hoffmann

Journal:

Pediatric Neurology

Year:

2002

Language:

english

File:

PDF, 36 KB

english, 2002

20

Lentiviral Hematopoietic Stem Cell Gene Therapy Corrects Murine Pompe Disease

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

Journal:

Molecular Therapy — Methods & Clinical Development

Year:

2020

File:

PDF, 2.37 MB

2020

21

Expression of cDNA-encoded human acid α-glucosidase in milk of transgenic mice

Agnes G.A. Bijvoet, Marian A. Kroos, Frank R. Pieper, Herman A. de Boer, Arnold J.J. Reuser, Ans T. van der Ploeg, Martin Ph. Verbeet

Journal:

Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression

Year:

1996

Language:

english

File:

PDF, 500 KB

english, 1996

22

Macrophage involvement in mitral valve pathology in mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)

Brands, Marion, Roelants, Jorine, de Krijger, Ronald, Bogers, Ad, Reuser, Arnold, van der Ploeg, Ans, Helbing, Wim

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 613 KB

english, 2013

23

Mouse teratocarcinoma mutant clones deficient in adenine phosphoribosyltransferase and developmentally pluripotent

Arnold J. J. Reuser, Beatrice Mintz

Journal:

Somatic Cell and Molecular Genetics

Year:

1979

Language:

english

File:

PDF, 1.35 MB

english, 1979

24

Hearing loss in infantile Pompe's disease and determination of underlying pathology in the knockout mouse

Joep H.J Kamphoven, Martijn M de Ruiter, Leon P.F Winkel, Hannerieke M.P Van den Hout, Jan Bijman, Chris I De Zeeuw, Hans L Hoeve, Bert A Van Zanten, Ans T Van der Ploeg, Arnold J.J Reuser

Journal:

Neurobiology of Disease

Year:

2004

Language:

english

File:

PDF, 579 KB

english, 2004

25

Synthesis and intracellular localization of chick acid α-glucosidase in chick erythrocyte-human fibroblast heterokaryons: A model system for the study of lysosomal enzyme synthesis

Herman J. Sips, Arnold J.J. Reuser, Eveline Van Der Veer

Journal:

Experimental Cell Research

Year:

1986

Language:

english

File:

PDF, 1.47 MB

english, 1986

26

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders — Current status and perspectives

Arnold J. Reuser, Frans W. Verheijen, Deeksha Bali, Otto P. van Diggelen, Dominique P. Germain, Wuh-Liang Hwu, Zoltan Lukacs, Adolf Mühl, Petra Olivova, Monique Piraud, Birgit Wuyts, Kate Zhang, Joan

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 187 KB

english, 2011

27

Breakdown of lysosomal glycogen in cultured fibroblasts from glycogenosis type II patients after uptake of acid α-glucosidase

Ans T. van der Ploeg, Marian Kroos, Johan M. van Dongen, Willem J. Visser, Piet A. Bolhuis, M.Christa B. Loonen, Arnold J.J. Reuser

Journal:

Journal of the Neurological Sciences

Year:

1987

Language:

english

File:

PDF, 1.07 MB

english, 1987

28

Structural modeling of mutant α-glucosidases resulting in a processing/transport defect in Pompe disease

Sugawara, Kanako, Saito, Seiji, Sekijima, Masakazu, Ohno, Kazuki, Tajima, Youichi, Kroos, Marian A, Reuser, Arnold J J, Sakuraba, Hitoshi

Journal:

Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 649 KB

english, 2009

29

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

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.

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 586 KB

english, 2016

30

Isolation and Characterisation of a Recombinant, Precursor form of Lysosomal Acid α-Glucosidase

Maria Fuller, Ans Van Der Ploeg, Arnold J. J. Reuser, Donald S. Anson, John J. Hopwood

Journal:

Year:

1995

Language:

english

File:

PDF, 895 KB

english, 1995

31

Severely impaired health status at diagnosis of Pompe disease: A cross-sectional analysis to explore the potential utility of neonatal screening

Tessel Rigter, Stephanie S. Weinreich, Carla G. van El, Juna M. de Vries, Carin M. van Gelder, Deniz Güngör, Arnold J.J. Reuser, Marloes L.C. Hagemans, Martina C. Cornel, Ans T. van der Ploeg

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 684 KB

english, 2012

32

Cardiac remodeling and contractile function in acid α-glucosidase knockout mice

KAMPHOVEN, JOEP H. J., STUBENITSKY, RENE, REUSER, ARNOLD J. J., VAN DER PLOEG, ANS T., VERDOUW, PIETER D., DUNCKER, DIRK J.

Journal:

Physiological Genomics

Year:

2001

Language:

english

File:

PDF, 183 KB

english, 2001

33

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating

Marian Kroos, Robert J. Pomponio, Laura van Vliet, Rachel E. Palmer, Michael Phipps, Robert Van der Helm, Dicky Halley, Arnold Reuser

Journal:

Year:

2008

Language:

english

File:

PDF, 206 KB

english, 2008

34

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

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

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 168 KB

english, 2010

35

Enzyme assays at the single cell level using a new type of microfluorimeter

Johan F. Jongkind, Johan S. Ploem, Arnold J. J. Reuser, Hans Galjaard

Journal:

Histochemistry and Cell Biology

Year:

1974

Language:

english

File:

PDF, 512 KB

english, 1974

36

Chemical chaperones improve transport and enhance stability of mutant α-glucosidases in glycogen storage disease type II

Toshika Okumiya, Marian A. Kroos, Laura Van Vliet, Hiroaki Takeuchi, Ans T. Van der Ploeg, Arnold J.J. Reuser

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 542 KB

english, 2007

37

Atypical expression of ß-galactosidase deficiency in a child with Hurler-like features but without neurological abnormalities

Generoso Andria, Ennio Del Giudice, Arnold J. J. Reuser

Journal:

Clinical Genetics

Year:

1978

Language:

english

File:

PDF, 578 KB

english, 1978

38

Lysosomal α-glucosidase: cell-specific processing and altered maturation in HT-29 colon cancer cells

FRANCÍ, Clara, EGEA, Gustavo, ARRIBAS, Rosa, REUSER, Arnold J. J., REAL, Francisco X.

Journal:

Biochemical Journal

Year:

1996

Language:

english

File:

PDF, 458 KB

english, 1996

39

Pathological features of glycogen storage disease type II highlighted in the knockout mouse model

Bijvoet, Agnes G. A., Van Hirtum, Hans, Vermey, Marcel, Van Leenen, Dik, Van der Ploeg, Ans T., Mooi, Wolter J., Reuser, Arnold J. J.

Journal:

The Journal of Pathology

Year:

1999

Language:

english

File:

PDF, 794 KB

english, 1999

40

The Induction of Translocators for Di- and Tricarboxylic-Acid Anions in Azotobacter vinelandii

Arnold J. J. Reuser, Pieter W. Postma

Journal:

Year:

1973

Language:

english

File:

PDF, 847 KB

english, 1973

41

Determination of Gaucher's disease phenotypes with monoclonal antibody

Edward I. Ginns, Franz P.W. Tegelaers, Ruud Barneveld, Hans Galjaard, Arnold J.J. Reuser, Roscoe O. Brady, Joseph M. Tager, John A. Barranger

Journal:

Clinica Chimica Acta

Year:

1983

Language:

english

File:

PDF, 377 KB

english, 1983

42

[Part 2: Biological Sciences] || Introduction of a Viral Thymidine Kinase Gene and the Human β -globin Gene into Developmentally Multipotential Mouse Teratocarcinoma Cells

Angel Pellicer, Erwin F. Wagner, Adele El Kareh, Michael J. Dewey, Arnold J. Reuser, Saul Sil verstein, Richard Axel and Beatrice Mintz

Journal:

Proceedings of the National Academy of Sciences

Year:

1980

Language:

english

File:

PDF, 1.55 MB

english, 1980

43

Lentiviral Stem Cell Gene Therapy for Pompe Disease

Liang, Qiushi, Stok, Merel, van Helsdingen, Yvette, van der Velden, Guus, Jacobs, Ed, Duncker, Dirk, Reuser, Arnold, van der Ploeg, Ans, Vulto, Arnold, van Til, Niek P., Wagemaker, Gerard

Journal:

Journal of Neuromuscular Diseases

Year:

2015

File:

PDF, 182 KB

2015

44

Lysosomal dysfunction, cellular pathology and clinical symptoms: basic principles

Arnold J. J. Reuser, Maarten R. Drost

Journal:

Acta Paediatrica

Year:

2006

Language:

english

File:

PDF, 254 KB

english, 2006

45

Pompe Disease: A Continuum of Clinical Phenotypes

Marloes Hagemans, Nadine van der Beek, Arnold Reuser, Pieter van Doorn, Ans van der Ploeg

Journal:

Clinical Therapeutics

Year:

2007

Language:

english

File:

PDF, 56 KB

english, 2007

46

Intercellular exchange of lysosomal enzymes: Enzyme assays in single human fibroblasts after co-cultivation

Arnold Reuser, Dicky Halley, Elly de Wit, Andre Hoogeveen, Madeleine van der Kamp, Maarten Mulder, Hans Galjaard

Journal:

Biochemical and Biophysical Research Communications

Year:

1976

Language:

english

File:

PDF, 372 KB

english, 1976

47

Biochemical genetics of the Lapland dog model of glycogen storage disease type II (acid α-glucosidase deficiency)

Dr. Hendrik C. Walvoort, Regina G. Slee, Koos J. Sluis, Johan F. Koster, Arnold J. J. Reuser

Journal:

American Journal of Medical Genetics Part A

Year:

1984

Language:

english

File:

PDF, 631 KB

english, 1984

48

How to describe the clinical spectrum in Pompe disease?

Güngör, Deniz, Reuser, Arnold J.J.

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 68 KB

english, 2013

49

Cell-free translation of human lysosomal α-glucosidase: Evidence for reduced precursor synthesis in an adult patient with glycogenosis type II

Gijsbertus T.J. van der Horst, Elizabeth H. Hoefsloot, Marian A. Kroos, Arnold J.J. Reuser

Journal:

Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression

Year:

1987

Language:

english

File:

PDF, 562 KB

english, 1987

50

Prenatal Diagnosis of Glycogen Storage Disease Type II: Enzyme Assay or Mutation Analysis?

Kleijer, Wim J, Der Kraan, Magna Van, Kroos, Marian A, Groener, Johanna E M, Van Diggelen, Otto P, Reuser, Arnold J J, Van Der Ploeg, Ans T

Journal:

Pediatric Research

Year:

1995

Language:

english

File:

PDF, 431 KB

english, 1995

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