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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

Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders

Molema, Femke, Gleich, Florian, Burgard, Peter, van der Ploeg, Ans T., Summar, Marshall L., Chapman, Kimberly A., Barić, Ivo, Lund, Allan M., Kölker, Stefan, Williams, Monique

Journal:

Journal of Inherited Metabolic Disease

Year:

2019

Language:

english

File:

PDF, 1.52 MB

english, 2019

3

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

4

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

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

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

7

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

8

Pompe disease: Design, methodology, and early findings from the Pompe Registry

Barry J. Byrne, Priya S. Kishnani, Laura E. Case, Luciano Merlini, Wolfgang Müller-Felber, Suyash Prasad, Ans van der Ploeg

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 479 KB

english, 2011

9

The prevalence and impact of scoliosis in Pompe disease: Lessons learned from the Pompe Registry

Mark Roberts, Priya S. Kishnani, Ans T. van der Ploeg, Wolfgang Müller-Felber, Luciano Merlini, Suyash Prasad, Laura E. Case

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 445 KB

english, 2011

10

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

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

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

13

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

14

Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in classic-infantile patients with Pompe disease

Kanters, Tim A, Hoogenboom-Plug, Iris, Rutten-Van Mölken, Maureen PMH, Redekop, W, van der Ploeg, Ans T, Hakkaart, Leona

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 567 KB

english, 2014

15

A New Coding System for Metabolic Disorders Demonstrates Gaps in the International Disease Classifications ICD-10 and SNOMED-CT, Which Can Be Barriers to Genotype-Phenotype Data Sharing

Sollie, Annet, Sijmons, Rolf H., Lindhout, Dick, van der Ploeg, Ans T., Rubio Gozalbo, M. Estela, Smit, G. Peter A., Verheijen, Frans, Waterham, Hans R., van Weely, Sonja, Wijburg, Frits A., Wijburg,

Journal:

Year:

2013

Language:

english

File:

PDF, 331 KB

english, 2013

16

A diagnostic approach for the unbiased identification of splice switching variants enables tailored antisense oligonucleotide-based correction

Bergsma, Atze J., in't Groen, Stijn L.M., van der Ploeg, Ans T., Pijnappel, Pim W.W.M.

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 46 KB

english, 2016

17

A conceptual disease model for adult Pompe disease

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

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 575 KB

english, 2015

18

Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease

van der Wal, Erik, Bergsma, Atze J., Pijnenburg, Joon M., van der Ploeg, Ans T., Pijnappel, W.W.M. Pim

Journal:

Molecular Therapy — Nucleic Acids

Year:

2017

Language:

english

File:

PDF, 2.04 MB

english, 2017

19

High Sustained Antibody Titers in Patients with Classic Infantile Pompe Disease Following Immunomodulation at Start of Enzyme Replacement Therapy

Poelman, Esther, Hoogeveen-Westerveld, Marianne, Kroos-de Haan, Marian A., van den Hout, Johanna M.P., Bronsema, Kees J., van de Merbel, Nico C., van der Ploeg, Ans T., Pijnappel, W.W.M. Pim

Journal:

The Journal of Pediatrics

Year:

2018

Language:

english

File:

PDF, 1.16 MB

english, 2018

20

Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain

Ebbink, Berendine J, Poelman, Esther, Aarsen, Femke K, Plug, Iris, Régal, Luc, Muentjes, Carsten, van der Beek, Nadine A M E, Lequin, Maarten H, van der Ploeg, Ans T, van den Hout, Johanna M P

Journal:

Developmental Medicine & Child Neurology

Year:

2018

Language:

english

File:

PDF, 330 KB

english, 2018

21

Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in adult patients with Pompe disease

Kanters, Tim A., van der Ploeg, Ans T., Kruijshaar, Michelle E., Rizopoulos, Dimitris, Redekop, W. Ken, Rutten-van Mӧlken, Maureen P. M. H., Hakkaart-van Roijen, Leona

Journal:

Orphanet Journal of Rare Diseases

Year:

2017

Language:

english

File:

PDF, 533 KB

english, 2017

22

Enzyme replacement therapy reduces the risk for wheelchair dependency in adult Pompe patients

van der Meijden, Jan C., Kruijshaar, Michelle E., Rizopoulos, Dimitris, van Doorn, Pieter A., van der Beek, Nadine A. M. E., van der Ploeg, Ans T.

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 609 KB

english, 2018

23

Ready for repair? Gene editing enters the clinic for the treatment of human disease.

Ernst, Martijn P.T., Broeders, Mike, Herrero-Hernandez, Pablo, Oussoren, Esmee, van der Ploeg, Ans T., Pijnappel, W.W.M. Pim

Journal:

Molecular Therapy — Methods & Clinical Development

Year:

2020

File:

PDF, 3.83 MB

2020

24

Positive association between physical outcomes and patient-reported outcomes in late-onset Pompe disease: a cross sectional study

Yuan, Meng, Andrinopoulou, Eleni-Rosalina, Kruijshaar, Michelle E., Lika, Aglina, Harlaar, Laurike, van der Ploeg, Ans T., Rizopoulos, Dimitris, van der Beek, Nadine A. M. E.

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 784 KB

2020

25

Hip disease in Mucopolysaccharidoses and Mucolipidoses: A review of mechanisms, interventions and future perspectives

Oussoren, Esmee, Wagenmakers, Margreet A.E.M., Link, Bianca, van der Meijden, Jan C., Pijnappel, W.W.M. Pim, Ruijter, George J.G., Langeveld, Mirjam, van der Ploeg, Ans T.

Journal:

Year:

2021

File:

PDF, 2.09 MB

2021

26

Can serial cerebral MRIs predict the neuronopathic phenotype of MPS II ?

Vollebregt, Audrey A. M., Ebbink, Berendine J., Rizopoulos, Dimitris, Lequin, Maarten H., Aarsen, Femke K., Shapiro, Elsa G., van der Ploeg, Ans T., van den Hout, Johanna M.P.

Journal:

Journal of Inherited Metabolic Disease

Year:

2020

File:

PDF, 1.18 MB

2020

27

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

28

Deletions spanning the neurofibromatosis type 1 gene: Implications for genotype-phenotype correlations in neurofibromatosis type 1?

Marjon H. Cnossen, Mieke N. van der Est, Martijn H. Breuning, Christi J. van Asperen, Elisabeth J. Breslau-Siderius, Ans T. van der Ploeg, Arja de Goede-Bolder, Ans M. W. van den Ouweland, Dicky J. J.

Journal:

Year:

1997

Language:

english

File:

PDF, 202 KB

english, 1997

29

The genotype–phenotype correlation in Pompe disease

Marian Kroos, Marianne Hoogeveen-Westerveld, Ans van der Ploeg, Arnold J.J. Reuser

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2012

Language:

english

File:

PDF, 282 KB

english, 2012

30

Twenty-two novel mutations in the lysosomal α-glucosidase gene (GAA) underscore the genotype–phenotype correlation in glycogen storage disease type II

Monique M.P. Hermans, Dik van Leenen, Marian A. Kroos, Clare E. Beesley, Ans T. Van der Ploeg, Hitoshi Sakuraba, Ron Wevers, Wim Kleijer, Helen Michelakakis, Edwin P. Kirk, Janice Fletcher, Nils Bossh

Journal:

Year:

2004

Language:

english

File:

PDF, 282 KB

english, 2004

31

Enzyme therapy for Pompe disease: from science to industrial enterprise

Arnold J. Reuser, Hannerieke Van den Hout, Agnes G. Bijvoet, Marian A. Kroos, Martin P. Verbeet, Ans T. Van der Ploeg

Journal:

European Journal of Pediatrics

Year:

2002

Language:

english

File:

PDF, 144 KB

english, 2002

32

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

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

Journal:

European Journal of Pediatrics

Year:

2008

Language:

english

File:

PDF, 307 KB

english, 2008

33

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

34

Burden of illness of Pompe disease in patients only receiving supportive care

Tim A. Kanters, Marloes L. C. Hagemans, Nadine A. M. E. van der Beek, Frans F. H. Rutten, Ans T. van der Ploeg, Leona Hakkaart

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 138 KB

english, 2011

35

The quick motor function test: a new tool to rate clinical severity and motor function in Pompe patients

Carine I. van Capelle, Nadine A. M. E. van der Beek, Juna M. de Vries, Pieter A. van Doorn, Hugo J. Duivenvoorden, Robert T. Leshner, Marloes L. C. Hagemans, Ans T. van der Ploeg

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 190 KB

english, 2012

36

p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?

Kroos, Marian A, Mullaart, Reinier A, Van Vliet, Laura, Pomponio, Robert J, Amartino, Hernan, Kolodny, Edwin H, Pastores, Gregory M, Wevers, Ron A, Van der Ploeg, Ans T, Halley, Dicky J J

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 115 KB

english, 2008

37

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

38

The Pompe Registry: Baseline Data From the First Five Years

Priya Kishnani, Barry Byrne, Laura Case, Luciano Merlini, Wolfgang Müller-Felber, Suyash Prasad, Ans van der Ploeg

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 78 KB

english, 2011

39

Survival and Prognostic Factors Prior to Enzyme Replacement Therapy in 302 Children and Adults with Pompe Disease

Deniz Güngör, Juna M. de Vries, Wim C.J. Hop, Arnold J.J. Reuser, Pieter A. van Doorn, Ans T. van der Ploeg, Marloes L.C. Hagemans

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 73 KB

english, 2011

40

The Heterogeneity of Pompe Disease: Early Data on Genotype From the Pompe Registry

Priya Kishnani, Barry Byrne, Laura Case, Edward Cupler, Angela Genge, Ans van der Ploeg, Suyash Prasad

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 98 KB

english, 2011

41

Gingival Overgrowth in Pompe Disease: A Case Report

J. Pieter de Gijt, Carine I. van Capelle, J. Wolter Oosterhuis, Ans T. van der Ploeg, Karel G.H. van der Wal

Journal:

Journal of Oral and Maxillofacial Surgery

Year:

2011

Language:

english

File:

PDF, 2.22 MB

english, 2011

42

Pregnancy outcome in a Pompe disease patient treated with enzyme replacement therapy

Christopher Lindberg, Elisabet Hammarén, Ans van der Ploeg

Journal:

Clinical Therapeutics

Year:

2010

Language:

english

File:

PDF, 238 KB

english, 2010

43

Cochlear system and hearing deficits

Ans van der Ploeg, Carine van Capelle, Arnold Reuser, J.M. van den Hout

Journal:

Clinical Therapeutics

Year:

2010

Language:

english

File:

PDF, 240 KB

english, 2010

44

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

45

Dried Blood Spot Analysis: An Easy and Reliable Tool to Monitor the Biochemical Effect of Hematopoietic Stem Cell Transplantation in Hurler Syndrome Patients

Mieke Aldenhoven, Tom J. de Koning, Frans W. Verheijen, Berthil H. Prinsen, Frits A. Wijburg, Ans T. van der Ploeg, Monique G.M. de Sain-van der Velden, JaapJan Boelens

Journal:

Biology of Blood and Marrow Transplantation

Year:

2010

Language:

english

File:

PDF, 142 KB

english, 2010

46

Low bone mass in Pompe disease: Muscular strength as a predictor of bone mineral density

Linda E.M. van den Berg, Adrienne A. Zandbergen, Carine I. van Capelle, Juna M. de Vries, Wim C. Hop, Johanna M. van den Hout, Arnold J.J. Reuser, M. Carola Zillikens, Ans T. van der Ploeg

Journal:

Year:

2010

Language:

english

File:

PDF, 406 KB

english, 2010

47

Reply to the letter to the editor by Papadimas et al.: “Bone mineral density in adult patients with Pompe disease”

Linda E.M. van den Berg, Adrienne A. Zandbergen, Carine I. van Capelle, Juna M. de Vries, Wim C. Hop, Johanna M. van den Hout, Arnold J. Reuser, M. Carola Zillikens, Ans. T. van der Ploeg

Journal:

Year:

2011

Language:

english

File:

PDF, 112 KB

english, 2011

48

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

49

A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn

Marian A Kroos, Janbernd Kirschner, Frank N Gellerich, Monique M.P Hermans, Ans T Van der Ploeg, Arnold J.J Reuser, Rudolf Korinthenberg

Journal:

Neuromuscular Disorders

Year:

2004

Language:

english

File:

PDF, 93 KB

english, 2004

50

A case of adult Pompe disease presenting with severe fatigue and selective involvement of type 1 muscle fibers

Linda E.M. van den Berg, Juna M. de Vries, Robert M. Verdijk, Ans T. van der Ploeg, Arnold J.J. Reuser, Pieter A. van Doorn

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 430 KB

english, 2011