Publications by authors named "Ans T van der Ploeg"

100Publications

Chest MRI to diagnose early diaphragmatic weakness in Pompe disease.

Orphanet J Rare Dis 2021 Jan 7;16(1):21. Epub 2021 Jan 7.

Center for Lysosomal and Metabolic Diseases, Department of Neurology, Erasmus MC, University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands.

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January 2021

"Building bridges"-An opportunity to connect, inspire, and innovate. SSIEM 2019 Annual Symposium in Rotterdam, The Netherlands.

J Inherit Metab Dis 2020 Dec 22. Epub 2020 Dec 22.

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

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December 2020

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

J Inherit Metab Dis 2020 Dec 16. Epub 2020 Dec 16.

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

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December 2020

A Generic Assay to Detect Aberrant Splicing and mRNA Degradation for the Molecular Diagnosis of MPS VI.

Mol Ther Methods Clin Dev 2020 Dec 16;19:174-185. Epub 2020 Sep 16.

Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.

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December 2020

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

Bone 2021 Feb 29;143:115729. Epub 2020 Oct 29.

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

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February 2021

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

Orphanet J Rare Dis 2020 09 3;15(1):232. Epub 2020 Sep 3.

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

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September 2020

Ready for Repair? Gene Editing Enters the Clinic for the Treatment of Human Disease.

Mol Ther Methods Clin Dev 2020 Sep 3;18:532-557. Epub 2020 Jul 3.

Department of Pediatrics, Erasmus University Medical Center, Rotterdam, the Netherlands.

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September 2020

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

iScience 2020 Jan 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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January 2020

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

Neurology 2019 11 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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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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May 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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March 2019

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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October 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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May 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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June 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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September 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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May 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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June 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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November 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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April 2018

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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December 2018

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

Orphanet J Rare Dis 2017 12 13;12(1):179. Epub 2017 Dec 13.

Erasmus School of Health Policy & Management, Erasmus University Rotterdam, Rotterdam, the Netherlands.

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December 2017

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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December 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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November 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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November 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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June 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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June 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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July 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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January 2017

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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September 2016

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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July 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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October 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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December 2015

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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February 2016

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

J Inherit Metab Dis 2016 Mar 3;39(2):253-60. Epub 2015 Nov 3.

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

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March 2016

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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October 2015

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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March 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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May 2016

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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September 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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July 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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April 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

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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May 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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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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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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August 2014

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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March 2015

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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May 2014

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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March 2015

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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November 2013

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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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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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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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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May 2013

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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November 2012

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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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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September 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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March 2012