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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.

Autor: Schoser B; Department of Neurology, Friedrich-Baur-Institute, LMU Clinics Munich, Munich, Germany., van der Beek NAME; Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., Broomfield A; Metabolic Department, Great Ormond Street Hospital, London, UK., Brusse E; Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., Diaz-Manera J; John Walton Muscular Dystrophy Research Center, Newcastle University Translational and Clinical Research Institute, Newcastle Upon Tyne, UK., Hahn A; Department of Child Neurology, Justus-Liebig-University Giessen, Giessen, Germany., Hundsberger T; Department of Neurology, Cantonal Hospital St Gallen, St Gallen, Switzerland., Kornblum C; Neuromuscular Diseases Section, Department of Neurology, University Hospital Bonn, Bonn, Germany., Kruijshaar M; Center for Lysosomal and Metabolic Diseases Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Laforet P; Neurology Department, Raymond Poincaré Hospital, Nord-Est-Ile-de-France Neuromuscular Reference Center, Garches, APHP, Paris, France.; FHU PHENIX, Université Versailles Saint Quentin en Yvelines, Paris-Saclay University, Paris, France., Mengel E; Institute of Clinical Science in LSD, SphinCS, Hochheim, Germany., Mongini T; Neuromuscular Unit, Department of Neurosciences RLM, University of Torino, Torino, Italy., Orlikowski D; Clinical Investigation Center 1429 APHP/INSERM, UMR 1179, Hôpital Raymond Poincaré, Université de Versailles Saint Quentin/Paris Saclay, FHU PHENIX, Paris, France., Parenti G; Department of Translational Medicine, Federico II University, Naples, Italy., Pijnappel WWMP; Department of Clinical Genetics, Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Roberts M; Manchester Centre for Clinical Neurosciences, Manchester, UK., Scherer T; Division of Endocrinology, Innere III, Medical University of Vienna, Vienna, Austria., Toscano A; ERN-NMD Center of Messina for Rare Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy., Vissing J; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., van den Hout JMP; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., van Doorn PA; Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., Wenninger S; Department of Neurology, Friedrich-Baur-Institute, LMU Clinics Munich, Munich, Germany., van der Ploeg AT; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.

Publikováno v: European journal of neurology [Eur J Neurol] 2024 Sep; Vol. 31 (9), pp. e16383. Date of Electronic Publication: 2024 Jun 14.

A knock down strategy for rapid, generic, and versatile modelling of muscular dystrophies in 3D-tissue-engineered-skeletal muscle.

Autor: In 't Groen SLM; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, 3015 GE, The Netherlands.; Department of Pediatrics, Erasmus University Medical Center, Rotterdam, 3015 GE, The Netherlands.; Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Rotterdam, 3015 GE, The Netherlands., Franken M; Department of Human Genetics, Leiden University Medical Center, Leiden, 2333 ZA, Netherlands., Bock T; Institute of Genetics and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.; Center for Molecular Medicine, University of Cologne, Cologne, Germany., Krüger M; Institute of Genetics and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.; Center for Molecular Medicine, University of Cologne, Cologne, Germany., de Greef JC; Department of Human Genetics, Leiden University Medical Center, Leiden, 2333 ZA, Netherlands., Pijnappel WWMP; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, 3015 GE, The Netherlands. w.pijnappel@erasmusmc.nl.; Department of Pediatrics, Erasmus University Medical Center, Rotterdam, 3015 GE, The Netherlands. w.pijnappel@erasmusmc.nl.; Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Rotterdam, 3015 GE, The Netherlands. w.pijnappel@erasmusmc.nl.

Publikováno v: Skeletal muscle [Skelet Muscle] 2024 Feb 22; Vol. 14 (1), pp. 3. Date of Electronic Publication: 2024 Feb 22.

Tagged IDS causes efficient and engraftment-independent prevention of brain pathology during lentiviral gene therapy for Mucopolysaccharidosis type II.

Autor: Catalano F; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3015GE, the Netherlands.; Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam 3015GE, the Netherlands.; Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam 3015GE, the Netherlands., Vlaar EC; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3015GE, the Netherlands.; Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam 3015GE, the Netherlands.; Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam 3015GE, the Netherlands., Katsavelis D; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3015GE, the Netherlands.; Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam 3015GE, the Netherlands.; Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam 3015GE, the Netherlands., Dammou Z; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3015GE, the Netherlands.; Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam 3015GE, the Netherlands.; Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam 3015GE, the Netherlands., Huizer TF; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3015GE, the Netherlands.; Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam 3015GE, the Netherlands.; Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam 3015GE, the Netherlands., van den Bosch JC; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3015GE, the Netherlands.; Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam 3015GE, the Netherlands., Hoogeveen-Westerveld M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3015GE, the Netherlands.; Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam 3015GE, the Netherlands., van den Hout HJMP; Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam 3015GE, the Netherlands.; Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam 3015GE, the Netherlands., Oussoren E; Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam 3015GE, the Netherlands.; Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam 3015GE, the Netherlands., Ruijter GJG; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3015GE, the Netherlands.; Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam 3015GE, the Netherlands., Schaaf G; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3015GE, the Netherlands.; Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam 3015GE, the Netherlands.; Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam 3015GE, the Netherlands., Pike-Overzet K; Department of Immunology, Leiden University Medical Center, Leiden 2333ZA, the Netherlands., Staal FJT; Department of Immunology, Leiden University Medical Center, Leiden 2333ZA, the Netherlands.; Department of Pediatrics, Leiden University Medical Center, Leiden 2333ZA, the Netherlands., van der Ploeg AT; Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam 3015GE, the Netherlands.; Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam 3015GE, the Netherlands., Pijnappel WWMP; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3015GE, the Netherlands.; Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam 3015GE, the Netherlands.; Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam 3015GE, the Netherlands.

Publikováno v: Molecular therapy. Methods & clinical development [Mol Ther Methods Clin Dev] 2023 Nov 02; Vol. 31, pp. 101149. Date of Electronic Publication: 2023 Nov 02 (Print Publication: 2023).