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Books
Frans van Mieris 1635-1681 / Quentin Buvelot ; with essays by Otto Naumann and Eddy de Jongh and contributions by Peter van der Ploeg ... [et al.].
Author / Creator:Buvelot, Quentin.
Publisher:The Hague : Royal Picture Gallery Mauritshuis ; Washington [D.C.] : National Gallery of Art ; Zwolle : Waanders, c2005.
Call Numbers:NQ759.94074/5
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Books
Surveillance and security : technological politics and power in everyday life / edited by Torin Monahan.
Publisher:New York : Routledge, 2006.
Date:2006.
Call Numbers:N303.483/ 268
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ArticlesPeer ReviewedFull Text
Mucolipidosis type II and type III: a systematic review of 843 published cases
Author / Creator:Dogterom, Emma J. ; Wagenmakers, Margreet A. E. M. ; Wilke, Martina ; Demirdas, Serwet ; Muschol, Nicole M. ; Pohl, Sandra ; Meijden, Jan C. van der ; Rizopoulos, Dimitris ; Ploeg, Ans T. van der ; Oussoren, Esmée
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2021-11, Vol.23 (11), p.2047-2056
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ArticlesPeer ReviewedFull Text
Real-world evidence for Pompe disease remains fragmented. Comment on "A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ec...
Author / Creator:Kruijshaar, Michelle E ; House, Tiffany ; Schoser, Benedikt ; Laforêt, Pascal ; Theunissen, Maudy T M ; Wenninger, Stephan ; Hundsberger, Thomas ; Diaz-Manera, Jordi ; van der Ploeg, Ans T ; van der Beek, Nadine A M E
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2025-02, Vol.20 (1), p.74-4
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ArticlesPeer ReviewedFull Text
Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease
Author / Creator:van der Wal, Erik ; Bergsma, Atze J. ; Pijnenburg, Joon M. ; van der Ploeg, Ans T. ; Pijnappel, W.W.M. Pim
Publisher:United States: Elsevier Inc
Journal title:Molecular therapy. Nucleic acids, 2017-06, Vol.7 (C), p.90-100
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ArticlesPeer ReviewedFull Text
A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses
Author / Creator:Langereis, Eveline J. ; Wagemans, Tom ; Kulik, Wim ; Lefeber, Dirk J. ; van Lenthe, Henk ; Oussoren, Esmee ; van der Ploeg, Ans T. ; Ruijter, George J. ; Wevers, Ron A. ; Wijburg, Frits A. ; van Vlies, Naomi
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-09, Vol.10 (9), p.e0138622-e0138622
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ArticlesPeer ReviewedFull Text
GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells
Author / Creator:van der Wal, Erik ; Bergsma, Atze J. ; van Gestel, Tom J.M. ; in ‘t Groen, Stijn L.M. ; Zaehres, Holm ; Araúzo-Bravo, Marcos J. ; Schöler, Hans R. ; van der Ploeg, Ans T. ; Pijnappel, W.W.M. Pim
Publisher:United States: Elsevier Inc
Journal title:Molecular therapy. Nucleic acids, 2017-06, Vol.7 (C), p.101-115
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ArticlesPeer ReviewedFull Text
Prenatal Enzyme-Replacement Therapy
Author / Creator:van der Ploeg, Ans T.
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2022-12, Vol.387 (23), p.2189-2193
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ArticlesPeer ReviewedFull Text
Enzyme replacement therapy reduces the risk for wheelchair dependency in adult Pompe patients
Author / Creator: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.
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2018-05, Vol.13 (1), p.82-82, Article 82
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ArticlesPeer ReviewedFull Text
Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review
Author / Creator:Ditters, Imke A. M. ; van Kooten, Harmke A. ; van der Beek, Nadine A. M. E. ; van der Ploeg, Ans T. ; Huidekoper, Hidde H. ; van den Hout, Johanna M. P.
Publisher:Basel: MDPI AG
Journal title:Biomolecules (Basel, Switzerland), 2023-09, Vol.13 (9), p.1414
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ArticlesPeer ReviewedFull Text
Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease
Author / Creator:Schaaf, Gerben J. ; van Gestel, Tom J. M. ; in ‘t Groen, Stijn L. M. ; de Jong, Bart ; Boomaars, Björn ; Tarallo, Antonietta ; Cardone, Monica ; Parenti, Giancarlo ; van der Ploeg, Ans T. ; Pijnappel, W. W. M. Pim
Publisher:England: BioMed Central Ltd
Journal title:Acta neuropathologica communications, 2018-11, Vol.6 (1), p.119-119, Article 119
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ArticlesPeer ReviewedFull Text
The Dilemma of Two Innovative Therapies for Spinal Muscular Atrophy
Author / Creator:van der Ploeg, Ans T
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2017-11, Vol.377 (18), p.1786-1787
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ArticlesPeer ReviewedFull Text
A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease
Author / Creator:van der Ploeg, Ans T ; Clemens, Paula R ; Corzo, Deyanira ; Escolar, Diana M ; Florence, Julaine ; Groeneveld, Geert Jan ; Herson, Serge ; Kishnani, Priya S ; Laforet, Pascal ; Lake, Stephen L ; Lange, Dale J ; Leshner, Robert T ; Mayhew, Jill E ; Morgan, Claire ; Nozaki, Kenkichi ; Park, Dorothy J ; Pestronk, Alan ; Rosenbloom, Barry ; Skrinar, Alison ; van Capelle, Carine I ; van der Beek, Nadine A ; Wasserstein, Melissa ; Zivkovic, Sasa A
Publisher:Waltham, MA: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2010-04, Vol.362 (15), p.1396-1406
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ArticlesPeer ReviewedFull Text
Clinical insights in enzyme replacement therapy for metabolic storage disorders: lessons from Pompe disease
Author / Creator:van der Beek, Nadine A M E ; Theunissen, Maudy T M ; van den Hout, Johanna M P ; Pijnappel, Wilhelmus W M ; Schoser, Benedikt ; Laforêt, Pascal ; Parenti, Giancarlo ; van Doorn, Pieter A ; van der Ploeg, Ans T
Publisher:England: Elsevier Ltd
Journal title:Lancet neurology, 2025-03, Vol.24 (3), p.230-245
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ArticlesPeer ReviewedFull Text
Start, switch and stop (triple‐S) criteria for enzyme replacement therapy of late‐onset Pompe disease: European Pompe Consortium recommendation update 2024
Author / Creator:Schoser, Benedikt ; Beek, Nadine A. M. E. ; Broomfield, Alexander ; Brusse, Esther ; Diaz‐Manera, Jordi ; Hahn, Andreas ; Hundsberger, Thomas ; Kornblum, Cornelia ; Kruijshaar, Michelle ; Laforet, Pascal ; Mengel, Eugen ; Mongini, Tiziana ; Orlikowski, David ; Parenti, Giancarlo ; Pijnappel, W. W. M. Pim ; Roberts, Mark ; Scherer, Thomas ; Toscano, Antonio ; Vissing, John ; Hout, Johanna M. P. ; Doorn, Pieter A. ; Wenninger, Stephan ; Ploeg, Ans T.
Publisher:England: John Wiley & Sons, Inc
Journal title:European journal of neurology, 2024-09, Vol.31 (9), p.e16383-n/a
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ArticlesPeer ReviewedFull Text
Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience
Author / Creator:Niño, Monica Y. ; Wijgerde, Mark ; de Faria, Douglas Oliveira Soares ; Hoogeveen-Westerveld, Marianne ; Bergsma, Atze J. ; Broeders, Mike ; van der Beek, Nadine A. M. E. ; van den Hout, Hannerieke J. M. ; van der Ploeg, Ans T. ; Verheijen, Frans W. ; Pijnappel, W. W. M. Pim
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-03, Vol.29 (3), p.434-446
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ArticlesPeer ReviewedFull Text
microRNAs as biomarkers in Pompe disease
Author / Creator:Tarallo, Antonietta ; Carissimo, Annamaria ; Gatto, Francesca ; Nusco, Edoardo ; Toscano, Antonio ; Musumeci, Olimpia ; Coletta, Marcella ; Karali, Marianthi ; Acampora, Emma ; Damiano, Carla ; Minopoli, Nadia ; Fecarotta, Simona ; Della Casa, Roberto ; Mongini, Tiziana ; Vercelli, Liliana ; Santoro, Lucio ; Ruggiero, Lucia ; Deodato, Federica ; Taurisano, Roberta ; Bembi, Bruno ; Dardis, Andrea ; Banfi, Sandro ; Pijnappel, WW Pim ; van der Ploeg, Ans T ; Parenti, Giancarlo
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-03, Vol.21 (3), p.591-600
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ArticlesPeer ReviewedFull Text
Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study
Author / Creator:Ditters, Imke A. M. ; van der Beek, Nadine A. M. E. ; Brusse, Esther ; van der Ploeg, Ans T. ; van den Hout, Johanna M. P. ; Huidekoper, Hidde H.
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2023-05, Vol.18 (1), p.108-108, Article 108
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Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy
Author / Creator:Wraith, J. Edmond ; Scarpa, Maurizio ; Beck, Michael ; Bodamer, Olaf A. ; De Meirleir, Linda ; Guffon, Nathalie ; Meldgaard Lund, Allan ; Malm, Gunilla ; Van der Ploeg, Ans T. ; Zeman, Jiri
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:European journal of pediatrics, 2008-03, Vol.167 (3), p.267-277
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ArticlesPeer ReviewedFull Text
Long-term benefits of physical activity in adult patients with late onset Pompe disease: a retrospective cohort study with 10 years of follow-up
Author / Creator:Ismailova, Gamida ; Wagenmakers, Margreet A. E. M. ; Brusse, Esther ; van der Ploeg, Ans T. ; Favejee, Marein M. ; van der Beek, Nadine A. M. E. ; van den Berg, Linda E. M.
Publisher:London: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2023-10, Vol.18 (1), p.1-319, Article 319
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Showing 1 to 20 of 108 results

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Frans van Mieris 1635-1681 / Quentin Buvelot ; with essays by Otto Naumann and Eddy de Jongh and contributions by Peter van der Ploeg ... [et al.].

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Surveillance and security : technological politics and power in everyday life / edited by Torin Monahan.

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Mucolipidosis type II and type III: a systematic review of 843 published cases

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Real-world evidence for Pompe disease remains fragmented. Comment on "A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ec...

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

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A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses

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GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells

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Prenatal Enzyme-Replacement Therapy

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

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Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review

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Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease

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The Dilemma of Two Innovative Therapies for Spinal Muscular Atrophy

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A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease

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Clinical insights in enzyme replacement therapy for metabolic storage disorders: lessons from Pompe disease

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Start, switch and stop (triple‐S) criteria for enzyme replacement therapy of late‐onset Pompe disease: European Pompe Consortium recommendation update 2024

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Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience

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microRNAs as biomarkers in Pompe disease

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Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study

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

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Long-term benefits of physical activity in adult patients with late onset Pompe disease: a retrospective cohort study with 10 years of follow-up

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