Mucolipidosis type II and type III: a systematic review of 843 published cases
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
Published in Genetics in medicine (01.11.2021)
Published in Genetics in medicine (01.11.2021)
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Journal Article
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
Published in Molecular therapy. Nucleic acids (16.06.2017)
Published in Molecular therapy. Nucleic acids (16.06.2017)
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Journal Article
A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses
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
Published in PloS one (25.09.2015)
Published in PloS one (25.09.2015)
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Journal Article
GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells
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
Published in Molecular therapy. Nucleic acids (16.06.2017)
Published in Molecular therapy. Nucleic acids (16.06.2017)
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Journal Article
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
Published in Orphanet journal of rare diseases (22.05.2018)
Published in Orphanet journal of rare diseases (22.05.2018)
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Journal Article
Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review
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
Published in Biomolecules (Basel, Switzerland) (01.09.2023)
Published in Biomolecules (Basel, Switzerland) (01.09.2023)
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Journal Article
Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease
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
Published in Acta neuropathologica communications (07.11.2018)
Published in Acta neuropathologica communications (07.11.2018)
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Journal Article
Pompe's disease
van der Ploeg, Ans T, Dr, Reuser, Arnold JJ, PhD
Published in The Lancet (British edition) (11.10.2008)
Published in The Lancet (British edition) (11.10.2008)
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Journal Article
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry
Reuser, Arnold J. J., 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
Published in Human mutation (01.11.2019)
Published in Human mutation (01.11.2019)
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Journal Article
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations
Velho, Renata Voltolini, Harms, Frederike L., Danyukova, Tatyana, Ludwig, Nataniel F., Friez, Michael J., Cathey, Sara S., Filocamo, Mirella, Tappino, Barbara, Güneş, Nilay, Tüysüz, Beyhan, Tylee, Karen L., Brammeier, Kathryn L., Heptinstall, Lesley, Oussoren, Esmee, Ploeg, Ans T., Petersen, Christine, Alves, Sandra, Saavedra, Gloria Durán, Schwartz, Ida V., Muschol, Nicole, Kutsche, Kerstin, Pohl, Sandra
Published in Human mutation (01.07.2019)
Published in Human mutation (01.07.2019)
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Journal Article
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, Beek, Nadine A M E, Lequin, Maarten H, Ploeg, Ans T, Hout, Johanna M P
Published in Developmental medicine and child neurology (01.06.2018)
Published in Developmental medicine and child neurology (01.06.2018)
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Journal Article
A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease
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
Published in The New England journal of medicine (15.04.2010)
Published in The New England journal of medicine (15.04.2010)
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“Building bridges”—An opportunity to connect, inspire, and innovate. SSIEM 2019 Annual Symposium in Rotterdam, The Netherlands
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Journal Article
Conference Proceeding
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
Published in Molecular therapy. Methods & clinical development (11.09.2020)
Published in Molecular therapy. Methods & clinical development (11.09.2020)
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Journal Article
Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity
Niño, Monica Y., in 't Groen, Stijn L.M., Bergsma, Atze J., Beek, Nadine A.M.E., Kroos, Marian, Hoogeveen‐Westerveld, Marianne, Ploeg, Ans T., Pijnappel, W.W.M. Pim
Published in Human mutation (01.11.2019)
Published in Human mutation (01.11.2019)
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Journal Article
Sharpening the Molecular Scissors: Advances in Gene-Editing Technology
Broeders, Mike, Herrero-Hernandez, Pablo, Ernst, Martijn P.T., van der Ploeg, Ans T., Pijnappel, W.W.M. Pim
Published in iScience (24.01.2020)
Published in iScience (24.01.2020)
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Journal Article
Neurofilament light protein as a biomarker for spinal muscular atrophy: a review and reference ranges
Bayoumy, Sherif, Verberk, Inge M.W., Vermunt, Lisa, Willemse, Eline, den Dulk, Ben, van der Ploeg, Ans T., Pajkrt, Dasja, Nitz, Elisa, van den Hout, Johanna M.P., van der Post, Julie, Wolf, Nicole I., Beerepoot, Shanice, Groen, Ewout J.N., Tüngler, Victoria, Teunissen, Charlotte E.
Published in Clinical chemistry and laboratory medicine (25.06.2024)
Published in Clinical chemistry and laboratory medicine (25.06.2024)
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