Ans T Van der Ploeg

Ans T Van der Ploeg

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Ans T Van der Ploeg

Publications by authors named "Ans T Van der Ploeg"

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Sharpening the Molecular Scissors: Advances in Gene-Editing Technology.

iScience 2019 Dec 19;23(1):100789. Epub 2019 Dec 19.

Department of Pediatrics, Erasmus University Medical Center, 3015 GD Rotterdam, Netherlands; Department of Clinical Genetics, Erasmus University Medical Center, 3015 GD Rotterdam, Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, 3015 GE Rotterdam, Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.isci.2019.100789DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6941877PMC
December 2019

Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry.

J Inherit Metab Dis 2019 Nov 27;42(6):1162-1175. Epub 2019 Feb 27.

Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/jimd.12066DOI Listing
November 2019

Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease.

Neurology 2019 Nov 16;93(19):e1756-e1767. Epub 2019 Oct 16.

From the Departments of Neurology (L.H., E.B., P.A.v.D., N.A.M.E.v.d.B.) and Pediatrics (M.E.K., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases Erasmus MC, and Department of Biostatistics (D.R.), University Medical Center Rotterdam, Netherlands; Institute of Myology (J.-Y.H., B.P., N.T., A.C.), Pitié-Salpêtrière Hospital, Paris; Department of Neurology (P.L.), Nord/Est/Ile de France Neuromuscular Center, Raymond Poincaré Teaching Hospital, AP-HP, Garches; and INSERM U1179 (P.L.), END-ICAP, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.

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http://dx.doi.org/10.1212/WNL.0000000000008441DOI Listing
November 2019

A genetic modifier of symptom onset in Pompe disease.

EBioMedicine 2019 May 25;43:553-561. Epub 2019 Mar 25.

Department of Pediatrics, Erasmus University Medical Center, Rotterdam, Netherlands; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, 3015 GE Rotterdam, Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ebiom.2019.03.048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6562017PMC
May 2019

Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.

Mol Genet Metab 2019 04 25;126(4):397-405. Epub 2019 Feb 25.

Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.02.003DOI Listing
April 2019

Delayed Diagnosis of Danon Disease in Patients Presenting With Isolated Cardiomyopathy.

Circ Genom Precis Med 2019 03;12(3):e002395

Department of Clinical Genetics (S.D., M.A. v. S, M.L., M.W.W., G.J.S.), Sophia Children's Hospital, Erasmus Medical Centre, Erasmus University, Rotterdam, the Netherlands.

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http://dx.doi.org/10.1161/CIRCGEN.118.002395DOI Listing
March 2019

Alternative Splicing in Genetic Diseases: Improved Diagnosis and Novel Treatment Options.

Int Rev Cell Mol Biol 2018 12;335:85-141. Epub 2017 Sep 12.

Molecular Stem Cell Biology, Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands; Department of Pediatrics, Erasmus Medical Center, Rotterdam, The Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Rotterdam, The Netherlands. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S19376448173008
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http://dx.doi.org/10.1016/bs.ircmb.2017.07.008DOI Listing
December 2018

Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy.

J Inherit Metab Dis 2018 11 19;41(6):1205-1214. Epub 2018 Mar 19.

Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus MC University Medical Center, Wytemaweg 80, 3015 CN, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-018-0166-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6326992PMC
November 2018

Cardiac outcome in classic infantile Pompe disease after 13 years of treatment with recombinant human acid alpha-glucosidase.

Int J Cardiol 2018 Oct 19;269:104-110. Epub 2018 Jul 19.

Pompe Center and Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ijcard.2018.07.091DOI Listing
October 2018

Mucolipidosis type III, a series of adult patients.

J Inherit Metab Dis 2018 09 27;41(5):839-848. Epub 2018 Apr 27.

Department of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-018-0186-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133174PMC
September 2018

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

Dev Med Child Neurol 2018 06 24;60(6):579-586. Epub 2018 Mar 24.

Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands.

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http://dx.doi.org/10.1111/dmcn.13740DOI Listing
June 2018

Large-Scale Expansion of Human iPSC-Derived Skeletal Muscle Cells for Disease Modeling and Cell-Based Therapeutic Strategies.

Stem Cell Reports 2018 06 3;10(6):1975-1990. Epub 2018 May 3.

Department of Clinical Genetics, Erasmus University Medical Center, 3015 GE Rotterdam, Netherlands; Department of Pediatrics, Erasmus University Medical Center, 3015 GE Rotterdam, Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, 3015 GE Rotterdam, Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.stemcr.2018.04.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993675PMC
June 2018

Perioperative management of children with glycogen storage disease type II-Pompe disease.

Paediatr Anaesth 2018 05 25;28(5):428-435. Epub 2018 Mar 25.

Department of Anesthesiology, Erasmus MC-Sophia Children's Hospital, University Medical Centre, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1111/pan.13361DOI Listing
May 2018

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

Orphanet J Rare Dis 2018 05 22;13(1):82. Epub 2018 May 22.

Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, PO Box 2040, 3000, CA, Rotterdam, the Netherlands.

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http://dx.doi.org/10.1186/s13023-018-0824-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5964954PMC
May 2018

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

J Pediatr 2018 04 7;195:236-243.e3. Epub 2018 Feb 7.

Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Rotterdam, The Netherlands; Department of Pediatrics, Division of Metabolic Diseases and Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2017.11.046DOI Listing
April 2018

Long-term benefit of enzyme replacement therapy in Pompe disease: A 5-year prospective study.

Neurology 2017 Dec 8;89(23):2365-2373. Epub 2017 Nov 8.

From the Erasmus MC University Medical Center (E.K., S.C.A.W., J.M.d.V., E.B., P.A.v.D., N.A.M.E.v.d.B.), Center for Lysosomal and Metabolic Diseases, Department of Neurology; Erasmus MC University Medical Center-Sophia Children's Hospital (M.E.K., J.C.v.d.M., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases, Department of Pediatrics; Erasmus MC University Medical Center (M.M.F.), Center for Lysosomal and Metabolic Diseases, Department of Rehabilitation Medicine and Physical Therapy; and Erasmus MC University Medical Center (D.R.), Department of Biostatistics, Rotterdam, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000004711DOI Listing
December 2017

Response to Herbert et al.

Genet Med 2017 11 29;19(11):1283-1284. Epub 2017 Jun 29.

Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1038/gim.2017.49DOI Listing
November 2017

The Dilemma of Two Innovative Therapies for Spinal Muscular Atrophy.

N Engl J Med 2017 11;377(18):1786-1787

From the Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, Rotterdam, the Netherlands.

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http://dx.doi.org/10.1056/NEJMe1712106DOI Listing
November 2017

Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype.

Dev Med Child Neurol 2017 10 25;59(10):1063-1070. Epub 2017 May 25.

Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1111/dmcn.13467DOI Listing
October 2017

Quantification of Diaphragm Mechanics in Pompe Disease Using Dynamic 3D MRI.

PLoS One 2016 8;11(7):e0158912. Epub 2016 Jul 8.

Biomedical Imaging Group Rotterdam, Departments of Medical Informatics & Radiology, Erasmus MC, Rotterdam, the Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0158912PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4938606PMC
July 2017

A long term follow-up study of the development of hip disease in Mucopolysaccharidosis type VI.

Mol Genet Metab 2017 07 19;121(3):241-251. Epub 2017 May 19.

Center for Lysosomal and Metabolic Diseases, Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands; Department of Endocrinology and Metabolism, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.05.008DOI Listing
July 2017

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

Mol Ther Nucleic Acids 2017 Jun 14;7:101-115. Epub 2017 Mar 14.

Molecular Stem Cell Biology, Department of Clinical Genetics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands; Department of Pediatrics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, 3015 GE Rotterdam, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.omtn.2017.03.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5415960PMC
June 2017

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

Mol Ther Nucleic Acids 2017 06 14;7:90-100. Epub 2017 Mar 14.

Molecular Stem Cell Biology, Department of Clinical Genetics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands; Department of Pediatrics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.omtn.2017.03.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5415969PMC
June 2017

Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy.

Genet Med 2017 01 30;19(1):90-97. Epub 2016 Jun 30.

Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1038/gim.2016.70DOI Listing
January 2017

Commentary.

Clin Chem 2017 01;63(1):48

Center for Lysosomal and Metabolic Diseases, Departments of Pediatrics, Clinical Genetics, and Neurology, Erasmus MC, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1373/clinchem.2016.265280DOI Listing
January 2017

Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.

Eur J Hum Genet 2016 10 22;24(10):1424-9. Epub 2016 Jun 22.

Center for Lysosomal and Metabolic Diseases, Department of Paediatrics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2016.65DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5027693PMC
October 2016

From Cryptic Toward Canonical Pre-mRNA Splicing in Pompe Disease: a Pipeline for the Development of Antisense Oligonucleotides.

Mol Ther Nucleic Acids 2016 09 13;5(9):e361. Epub 2016 Sep 13.

Department of Clinical Genetics, Molecular Stem Cell Biology, Erasmus Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1038/mtna.2016.75DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5056997PMC
September 2016

A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses.

PLoS One 2015 25;10(9):e0138622. Epub 2015 Sep 25.

Department of Pediatric Metabolic Diseases, Emma Children's Hospital and Amsterdam Lysosome Center 'Sphinx', Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Laboratory for Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0138622PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4583541PMC
May 2016

Long-term cognitive follow-up in children treated for Maroteaux-Lamy syndrome.

J Inherit Metab Dis 2016 Mar 8;39(2):285-92. Epub 2015 Oct 8.

Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus MC University Medical Center - Sophia Children's Hospital, P.O. Box 2060, 3000 CB, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-015-9895-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4754322PMC
March 2016

Cognitive decline in classic infantile Pompe disease: An underacknowledged challenge.

Neurology 2016 Mar 4;86(13):1260-1. Epub 2016 Mar 4.

From Erasmus MC University Medical Center, Rotterdam, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000002523DOI Listing
March 2016

Elevated Plasma Cardiac Troponin T Levels Caused by Skeletal Muscle Damage in Pompe Disease.

Circ Cardiovasc Genet 2016 Feb 19;9(1):6-13. Epub 2016 Jan 19.

From the Department of Neurology (S.C.A.W., E.B., P.A.v.D.), Center for Lysosomal and Metabolic Diseases (S.C.A.W., G.J.S., M.E.K., T.J.M.v.G., S.G., J.P., E.B., A.T.v.d.P., P.A.v.D., W.W.M.P.P.), Molecular Stem Cell Biology, Department of Clinical Genetics (G.J.S., T.J.M.v.G., S.G., J.P., W.W.M.P.P.), Department of Cardiology (M.M.), Department of Clinical Chemistry (R.H.N.v.S.), Erasmus MC University Medical Center, Rotterdam, The Netherlands; Division of Metabolic Diseases and Genetics, Department of Pediatrics, Erasmus MC-Sophia, Rotterdam, The Netherlands (G.J.S., T.J.M.v.G., S.G., J.P., A.T.v.d.P., W.W.M.P.P.); Proteomics Center, Erasmus MC University Medical Center, Rotterdam, The Netherlands (D.H.W.D., J.A.A.D.); Netherlands Proteomics Center, Rotterdam, The Netherlands (D.H.W.D., J.A.A.D.); and NUTRIM School for Nutrition, Toxicology and Metabolism, Maastricht University Medical Center, Maastricht, The Netherlands (L.B.V.).

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http://dx.doi.org/10.1161/CIRCGENETICS.115.001322DOI Listing
February 2016

Minutes of the European POmpe Consortium (EPOC) Meeting March 27 to 28, 2015, Munich, Germany.

Acta Myol 2015 Dec;34(2-3):141-3

Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center and Dept of Pediatrics, Rotterdam, the Netherlands;

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4859079PMC
December 2015

Lack of robust satellite cell activation and muscle regeneration during the progression of Pompe disease.

Acta Neuropathol Commun 2015 Oct 28;3:65. Epub 2015 Oct 28.

Molecular Stem Cell Biology, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1186/s40478-015-0243-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4625612PMC
October 2015

A conceptual disease model for adult Pompe disease.

Orphanet J Rare Dis 2015 Sep 15;10:112. Epub 2015 Sep 15.

Institute for Medical Technology Assessment, Department of Health Policy & Management, Erasmus University Rotterdam, BOX 1738, 3000DR, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1186/s13023-015-0334-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570629PMC
September 2015

208th ENMC International Workshop: Formation of a European Network to develop a European data sharing model and treatment guidelines for Pompe disease Naarden, The Netherlands, 26-28 September 2014.

Neuromuscul Disord 2015 Aug 21;25(8):674-8. Epub 2015 Apr 21.

Centre for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus MC, Rotterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2015.04.006DOI Listing
August 2015

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.

Orphanet J Rare Dis 2015 Jul 19;10:87. Epub 2015 Jul 19.

Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus MC University Medical Center - Sophia Children's Hospital, PO Box 2040, 3000, CA, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1186/s13023-015-0303-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4506616PMC
July 2015

Hematopoietic cell transplantation for mucopolysaccharidosis patients is safe and effective: results after implementation of international guidelines.

Biol Blood Marrow Transplant 2015 Jun 20;21(6):1106-9. Epub 2015 Feb 20.

Pediatric Blood and Marrow Transplantation Program, University Medical Center Utrecht, Utrecht, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.bbmt.2015.02.011DOI Listing
June 2015

Exercise training in adults with Pompe disease: the effects on pain, fatigue, and functioning.

Arch Phys Med Rehabil 2015 May 11;96(5):817-22. Epub 2014 Dec 11.

Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center-Sophia Children's Hospital, Rotterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.apmr.2014.11.020DOI Listing
May 2015

Absolute quantification of the total and antidrug antibody-bound concentrations of recombinant human α-glucosidase in human plasma using protein G extraction and LC-MS/MS.

Anal Chem 2015 Apr 7;87(8):4394-401. Epub 2015 Apr 7.

†Bioanalytical Laboratory, PRA Health Sciences, Early Development Services, Westerbrink 3, 9405 BJ Assen, The Netherlands.

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http://dx.doi.org/10.1021/acs.analchem.5b00169DOI Listing
April 2015

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

J Inherit Metab Dis 2015 Mar 9;38(2):305-14. Epub 2014 Apr 9.

Department of Pediatrics, Division of Metabolic Diseases and Genetics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands,

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http://dx.doi.org/10.1007/s10545-014-9707-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4341007PMC
March 2015

Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey.

J Inherit Metab Dis 2015 Mar 22;38(2):323-31. Epub 2014 Jul 22.

Erasmus MC Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Division of Metabolic Diseases and Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-014-9737-0DOI Listing
March 2015

Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deterioration in Mucopolysaccharidosis Type III.

JIMD Rep 2015 26;18:63-8. Epub 2014 Sep 26.

Division of Metabolic Diseases (H7-270), Department of Pediatrics and Amsterdam Lysosome Center "Sphinx", Academic Medical Center (AMC), University of Amsterdam, ZIP code 22660, 1100 DD, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/8904_2014_350DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4361923PMC
March 2015

Is BRIEF a useful instrument in day to day care of patients with phenylketonuria?

Mol Genet Metab 2015 Mar 12;114(3):425-30. Epub 2014 Dec 12.

Department of Clinical Child and Adolescents Studies, Leiden Institute for Brain and Cognition, Leiden University, Leiden, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.12.302DOI Listing
March 2015

Identification and characterization of aberrant GAA pre-mRNA splicing in pompe disease using a generic approach.

Hum Mutat 2015 Jan 1;36(1):57-68. Epub 2014 Dec 1.

Molecular Stem Cell Biology, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands; Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, The Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.22705DOI Listing
January 2015

Identification and Characterization of Aberrant Splicing in Pompe Disease Using a Generic Approach.

J Neuromuscul Dis 2015;2(s1):S39

Molecular Stem Cell Biology, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.

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January 2015

Cine-MRI as a New Tool to Evaluate Diaphragmatic Dysfunction in Pompe Disease.

J Neuromuscul Dis 2015;2(s1):S57

Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, Netherlands.

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January 2015

Newborn screening for pompe disease? a qualitative study exploring professional views.

BMC Pediatr 2014 Aug 14;14:203. Epub 2014 Aug 14.

Department of Clinical Genetics/EMGO Institute for Health and Care Research, Section Community Genetics, VU University Medical Center, Van der Boechorststraat 7, 1081BT Amsterdam, The Netherlands.

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http://bmcpediatr.biomedcentral.com/articles/10.1186/1471-24
Publisher Site
http://dx.doi.org/10.1186/1471-2431-14-203DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4139142PMC
August 2014

Mental health and social functioning in early treated Phenylketonuria: the PKU-COBESO study.

Mol Genet Metab 2013 22;110 Suppl:S57-61. Epub 2013 Oct 22.

Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2013.10.011DOI Listing
July 2014

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

Orphanet J Rare Dis 2014 May 16;9:75. Epub 2014 May 16.

Institute for Medical Technology Assessment, Erasmus University Rotterdam, Burgemeester Oudlaan 50, P,O, Box 1738, 3000DR Rotterdam, The Netherlands.

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http://dx.doi.org/10.1186/1750-1172-9-75DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4038090PMC
May 2014

The impact of informal care for patients with Pompe disease: an application of the CarerQol instrument.

Mol Genet Metab 2013 Nov 8;110(3):281-6. Epub 2013 Aug 8.

Institute for Medical Technology Assessment, Department of Health Policy & Management, Erasmus University Rotterdam, Burgemeester Oudlaan 50, P.O. Box 1738, 3000 DR Rotterdam, The Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Dr. Molewaterplein 60, 3015 GJ, Rotterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2013.07.020DOI Listing
November 2013

Phenotypical variation within 22 families with Pompe disease.

Orphanet J Rare Dis 2013 Nov 19;8:182. Epub 2013 Nov 19.

Department of Neurology, Erasmus MC, 's-Gravendijkwal 230, 3015 CE Rotterdam, the Netherlands.

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http://dx.doi.org/10.1186/1750-1172-8-182DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3843594PMC
November 2013

Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.

Mol Genet Metab 2013 Aug 4;109(4):377-81. Epub 2013 Jun 4.

Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2013.05.016DOI Listing
August 2013

Enzyme replacement therapy and fatigue in adults with Pompe disease.

Mol Genet Metab 2013 Jun 3;109(2):174-8. Epub 2013 Apr 3.

Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2013.03.016DOI Listing
June 2013

Up to five years experience with 11 mucopolysaccharidosis type VI patients.

Mol Genet Metab 2013 May 4;109(1):70-6. Epub 2013 Mar 4.

Erasmus MC Center for Lysosomal and Metabolic Diseases, Sophia's Children's Hospital, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2013.02.013DOI Listing
May 2013

Mucopolysaccharidosis: cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VI.

J Inherit Metab Dis 2013 Mar 26;36(2):227-34. Epub 2012 Jan 26.

Department of Pediatrics, division of Metabolic Diseases and Genetics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center/Sophia's Children's Hospital, Dr. Molewaterplein 60, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-011-9444-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3590414PMC
March 2013

Treatment options for lysosomal storage disorders: developing insights.

Expert Opin Pharmacother 2012 Nov 26;13(16):2281-99. Epub 2012 Sep 26.

Erasmus MC University Medical Center, Center for Lysosomal and Metabolic Diseases, Department of Paediatrics, Dr. Molewaterplein 60, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1517/14656566.2012.729039DOI Listing
November 2012

Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa.

Mol Genet Metab 2012 Nov 17;107(3):456-61. Epub 2012 Sep 17.

Department of Pediatrics, Division of Metabolic Diseases and Genetics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center-University Hospital Sophia Children's Hospital, Dr Molewaterplein 60, 3015 GJ Rotterdam, The Netherlands.

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http://www.neuromuscular.ru/project/www.neuromuscular.ru/fil
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http://linkinghub.elsevier.com/retrieve/pii/S109671921200356
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http://dx.doi.org/10.1016/j.ymgme.2012.09.015DOI Listing
November 2012

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

Mol Genet Metab 2012 Nov 21;107(3):448-55. Epub 2012 Sep 21.

Department of Clinical Genetics/EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2012.09.017DOI Listing
November 2012

Physiotherapy management in late-onset Pompe disease: clinical practice in 88 patients.

Mol Genet Metab 2012 Sep 20;107(1-2):111-5. Epub 2012 Jul 20.

Dept. of Rehabilitation Medicine & Physical Therapy, Erasmus Medical Center, 3000 CA, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2012.07.014DOI Listing
September 2012

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

J Inherit Metab Dis 2012 Mar 13;35(2):317-23. Epub 2011 Sep 13.

Department of Pediatrics, Division of Metabolic Diseases and Genetics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Postbus 2060, 3000 CB, Rotterdam, the Netherlands.

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http://dx.doi.org/10.1007/s10545-011-9388-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3278629PMC
March 2012

Hearing in adults with Pompe disease.

J Inherit Metab Dis 2012 Mar 15;35(2):335-41. Epub 2011 Oct 15.

Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, 's-Gravendijkwal 230, 3015 CE, Rotterdam, The Netherlands.

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http://link.springer.com/content/pdf/10.1007/s10545-011-9396
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http://link.springer.com/10.1007/s10545-011-9396-3
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http://dx.doi.org/10.1007/s10545-011-9396-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3278617PMC
March 2012

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

Orphanet J Rare Dis 2012 Mar 14;7:15. Epub 2012 Mar 14.

Department of Clinical Genetics and Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1186/1750-1172-7-15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3351372PMC
March 2012

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

Mol Genet Metab 2011 Dec 16;104(4):574-82. Epub 2011 Aug 16.

Salford Royal NHS Foundation Trust, Salford, UK.

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http://dx.doi.org/10.1016/j.ymgme.2011.08.011DOI Listing
December 2011

First experience with enzyme replacement therapy during pregnancy and lactation in Pompe disease.

Mol Genet Metab 2011 Dec 16;104(4):552-5. Epub 2011 Sep 16.

Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2011.09.012DOI Listing
December 2011

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

J Inherit Metab Dis 2011 Oct 16;34(5):1045-52. Epub 2011 Apr 16.

Department of Health Policy & Management, Institute for Medical Technology Assessment, Erasmus University Rotterdam, Rotterdam, The Netherlands.

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http://link.springer.com/10.1007/s10545-011-9320-x
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http://dx.doi.org/10.1007/s10545-011-9320-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3173621PMC
October 2011

Gingival overgrowth in Pompe disease: a case report.

J Oral Maxillofac Surg 2011 Aug;69(8):2186-90

Department of Oral and Maxillofacial Surgery, Erasmus University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.joms.2011.03.070DOI Listing
August 2011

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

Orphanet J Rare Dis 2011 Jun 1;6:34. Epub 2011 Jun 1.

Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Dr, Molewaterplein 60, 3015 GJ Rotterdam, The Netherlands.

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http://dx.doi.org/10.1186/1750-1172-6-34DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3135500PMC
June 2011

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

Neuromuscul Disord 2011 Mar 22;21(3):232-4. Epub 2010 Dec 22.

Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.nmd.2010.11.016DOI Listing
March 2011

Ptosis, extraocular motility disorder, and myopia as features of pompe disease.

Orbit 2011 Mar;30(2):111-3

Department of Ophthalmology, Erasmus University Medical Centre, Rotterdam, The Netherlands.

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http://www.tandfonline.com/doi/full/10.3109/01676830.2010.54
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http://dx.doi.org/10.3109/01676830.2010.546932DOI Listing
March 2011