Skip to main content

Clinical trial of gene therapy for MPS VI - a severe lysosomal storage disorder

Publications

Mucolipidosis type III, a series of adult patients.

Author(s): Mario Maas; David van Eerd; Robert M. Verdijk; Ans T. van der Ploeg; Mirjam Langeveld; Janneke G. Langendonk; Esmee Oussoren; Jan C. van der Meijden; Carla E. M. Hollak; Elaine Murphy; George J. G. Ruijter; Robin H. Lachmann; Lies H. Hoefsloot
Permanent ID: Digital Object Identifier:10.1007/s10545-018-0186-z; Handle:1765/106120; PubMed Central ID:PMC6133174; PubMed ID:29704188

Low-dose Gene Therapy Reduces the Frequency of Enzyme Replacement Therapy in a Mouse Model of Lysosomal Storage Disease

Author(s): Edoardo Nusco; Marialuisa Alliegro; Rita Ferla; Chiara De Leonibus; Carmine Settembre; Alberto Auricchio
Published in: Elsevier BV 2016
Permanent ID: Digital Object Identifier:10.1038/mt.2016.181; PubMed Central ID:PMC5159621; PubMed ID:27658524

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

Author(s): Johanna M. P. Van den Hout; Johanna M. P. Van den Hout; Femke K. Aarsen; Rianne L. van de Weitgraven; Ans T. van der Ploeg; Marion M. G. Brands; Maarten H. Lequin; Iris Plug; Robert R.J. Coebergh van den Braak; Berendine J. Ebbink
Published in: Springer Netherlands urn:issn:0141-8955 2016
Permanent ID: PubMed Central ID:PMC4754322; PubMed ID:26450354; Digital Object Identifier:10.1007/s10545-015-9895-8

Macrophage involvement in mitral valve pathology in mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome).

Author(s): Ans T. van der Ploeg; Arnold J. J. Reuser; Jorine A. Roelants; Ad J.J.C. Bogers; Marion M. G. Brands; Ronald R. de Krijger; Willem A. Helbing
Permanent ID: Handle:1765/65795; Digital Object Identifier:10.1002/ajmg.a.36105

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

Author(s): Stephan C.A. Wens; Dimitris Rizopoulos; Deniz Güngör; Arnold J. J. Reuser; Tim A. Kanters; Ans T. van der Ploeg; Michelle E. Kruijshaar; Iris Plug; Pieter A. van Doorn
Permanent ID: PubMed Central ID:PMC4754323; PubMed ID:26531313; Handle:1765/83220; Digital Object Identifier:10.1007/s10545-015-9889-6

Non-clinical Safety and Efficacy of an AAV2/8 Vector Administered Intravenously for Treatment of Mucopolysaccharidosis Type VI.

Author(s): Marialuisa Alliegro; Margherita Dell’Anno; Alberto Auricchio; Edoardo Nusco; Maria Grazia Valsecchi; Severine Pouillot; Vincent Zuliani; Stefania Galimberti; Rita Ferla; Jean-Brice Marteau
Published in: American Society of Gene & Cell Therapy Molecular Therapy. Methods & Clinical Development 2017
Permanent ID: PubMed Central ID:PMC5552066; PubMed ID:28932756; Digital Object Identifier:10.1016/j.omtm.2017.07.004

Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure

Author(s): George J. G. Ruijter; Mirjam Langeveld; Marie-Lise C. van Veelen-Vincent; Johanna M.P. van den Hout; Robert M. Verdijk; Ans T. van der Ploeg; Irene M.J. Mathijssen; Jan C. van der Meijden; Esmee Oussoren; Margreet A E M Wagenmakers; Hansje H Bredero-Boelhouwer
Permanent ID: PubMed Central ID:PMC6326980; PubMed ID:30083803; Digital Object Identifier:10.1007/s10545-018-0212-1; Handle:1765/109761

Prevalence of Anti–Adeno-Associated Virus Serotype 8 Neutralizing Antibodies and Arylsulfatase B Cross-Reactive Immunologic Material in Mucopolysaccharidosis VI Patient Candidates for a Gene Therapy Trial

Author(s): Simona Fecarotta; Vincenzo Nigro; Giovanni Sorge; Karen Kozarsky; Giancarlo Parenti; Maurizio Scarpa; Ans T. van der Ploeg; Generoso Andria; Rossella Parini; Maria Alice Donati; Marco Savarese; Nicola Brunetti-Pierri; Pamela Claudiani; Hatice Serap Sivri; Rita Ferla; Alberto Auricchio; John J. Hopwood
Permanent ID: PubMed Central ID:PMC4367235; PubMed ID:25654180; Digital Object Identifier:10.1089/hum.2014.109

Childhood Pompe disease: clinical spectrum and genotype in 31 patients

Author(s): J. M. P. van den Hout; M. E. Rubio-Gozalbo; Helen Michelakakis; J. C. de Jongste; Robin H. Lachmann; Eugen Mengel; Thomas Voit; Terry G J Derks; J. C. van der Meijden; A.T. van der Ploeg; Michèl A.A.P. Willemsen; Marian A. Kroos; Arnold J. J. Reuser; C. I. van Capelle; Jaak Jaeken; M. Baethmann
Published in: Springer Science and Business Media LLC Orphanet Journal of Rare Diseases 2016
Permanent ID: Digital Object Identifier:10.1186/s13023-016-0442-y; Handle:2066/167647; Handle:11370/cba06438-98f0-435f-baad-6b443498e3e8; PubMed Central ID:PMC4870771; PubMed ID:27189384