Zobrazeno 1 - 10
of 690
pro vyhledávání: '"Oussoren E"'
Autor:
Giugliani R; Dep Genetics UFRGS, Casa dos Raros, INAGEMP, Med Genet Serv HCPA, and DASA Genomics, Porto Alegre, Brazil. rgiugliani@hcpa.edu.br., Gonzalez-Meneses A; Hospital Universitario Virgen del Rocio, Seville, Spain., Scarpa M; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, Udine, Italy., Burton B; Feinberg School of Medicine, Northwestern University, Chicago, IL, USA., Wang R; University of California Irvine School of Medicine, Children's Health of Orange County, Orange, CA, USA., Martins E; Centro Hospitalar Universitário de Santo António, Porto, Portugal., Oussoren E; Erasmus University Medical Center Rotterdam, Rotterdam, The Netherlands., Hennermann JB; University Medical Center Mainz, Villa Metabolica, Mainz, Germany., Chabrol B; Centre Hospitalier Universitaire La Timone, Marseille, France., Grant CL; Children's National Hospital, Washington, District of Columbia, USA., Sun A; Seattle Children's Hospital, Seattle, WA, USA., Durand C; Laboratorio Chamoles, Buenos Aires, Argentina., Hetzer J; Ultragenyx Pharmaceutical Inc, Novato, CA, USA., Malkus B; Ultragenyx Pharmaceutical Inc, Novato, CA, USA., Marsden D; Ultragenyx Pharmaceutical Inc, Novato, CA, USA., Merritt Ii JL; Ultragenyx Pharmaceutical Inc, Novato, CA, USA.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 May 07; Vol. 19 (1), pp. 189. Date of Electronic Publication: 2024 May 07.
Autor:
Catalano F; 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., Vlaar EC; 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., Dammou Z; 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., Katsavelis D; 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., Huizer TF; 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., Zundo G; 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., Hoogeveen-Westerveld M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Oussoren E; 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., van den Hout HJMP; 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., Schaaf G; 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., Pike-Overzet K; Department of Immunology, Leiden University Medical Center, Leiden, The Netherlands., Staal FJT; Department of Immunology, Leiden University Medical Center, Leiden, The Netherlands.; Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands., van der Ploeg AT; 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., Pijnappel WWMP; 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.
Publikováno v:
Human gene therapy [Hum Gene Ther] 2024 Apr; Vol. 35 (7-8), pp. 256-268. Date of Electronic Publication: 2024 Feb 02.
Autor:
Hermans ME; Department of Paediatrics, Division of Metabolic Diseases, Amsterdam UMC Location University of Amsterdam, Emma Children's Hospital, Amsterdam, the Netherlands.; Inborn Errors of Metabolism, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, the Netherlands., Geurtsen GJ; Department of Medical Psychology, Amsterdam Neuroscience Degeneration, Amsterdam UMC Location University of Amsterdam, Amsterdam, the Netherlands., Hollak CEM; Department of Internal Medicine, Division of Endocrinology and Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, the Netherlands., Janssen MCH; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands., Langendonk JG; Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands., Merckelbach VLV; Department of Medical Psychology, Amsterdam Neuroscience Degeneration, Amsterdam UMC Location University of Amsterdam, Amsterdam, the Netherlands., Oussoren E; Department of Paediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands., Oostrom KJ; Child and Adolescent Psychiatry & Psychosocial Care, Amsterdam UMC Location University of Amsterdam, Emma Children's Hospital, Amsterdam, the Netherlands., Bosch AM; Department of Paediatrics, Division of Metabolic Diseases, Amsterdam UMC Location University of Amsterdam, Emma Children's Hospital, Amsterdam, the Netherlands.; Inborn Errors of Metabolism, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, the Netherlands.
Publikováno v:
Acta neuropsychiatrica [Acta Neuropsychiatr] 2024 Jan 05, pp. 1-12. Date of Electronic Publication: 2024 Jan 05.
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).
Autor:
Broeders, M., van Rooij, Jgj, Oussoren, E., van Gestel, Tjm, Smith, Ca, Kimber, Sj, Verdijk, Rm, Wagenmakers, Maem, van den Hout, Jmp, van der Ploeg, At, Narcisi, R., Pijnappel, Wwmp
Publikováno v:
Frontiers in Bioengineering and Biotechnology, 10:949063. Frontiers Media S.A.
Mucopolysaccharidosis type VI (MPS VI) is a metabolic disorder caused by disease-associated variants in the Arylsulfatase B (ARSB) gene, resulting in ARSB enzyme deficiency, lysosomal glycosaminoglycan accumulation, and cartilage and bone pathology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c126ab3ae5762f8e0e5df626082e250
https://pubmed.ncbi.nlm.nih.gov/36561048
https://pubmed.ncbi.nlm.nih.gov/36561048
Autor:
Hagemeijer MC; Center for Lysosomal and Metabolic Diseases, Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands., van den Bosch JC; Center for Lysosomal and Metabolic Diseases, Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands., Bongaerts M; Center for Lysosomal and Metabolic Diseases, Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands., Jacobs EH; Center for Lysosomal and Metabolic Diseases, Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands., van den Hout JMP; Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus University Medical Center, Rotterdam, The Netherlands., Oussoren E; Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus University Medical Center, Rotterdam, The Netherlands., Ruijter GJG; Center for Lysosomal and Metabolic Diseases, Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2023 Mar; Vol. 46 (2), pp. 206-219. Date of Electronic Publication: 2023 Feb 28.
Autor:
Dogterom EJ; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Wagenmakers MAEM; Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Wilke M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Demirdas S; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Muschol NM; International Center for Lysosomal Disorders, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Pohl S; Skeletal Pathobiochemistry, Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Meijden JCV; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Rizopoulos D; Department of Biostatistics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Ploeg ATV; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Oussoren E; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands. e.oussoren@erasmusmc.nl.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Nov; Vol. 23 (11), pp. 2047-2056. Date of Electronic Publication: 2021 Jun 25.
Autor:
Hoytema van Konijnenburg EMM; Department of Metabolic Diseases, Wilhelmina Children's Hospital University Medical Center Utrecht Utrecht the Netherlands., Oussoren E; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases Erasmus University Medical Center Rotterdam the Netherlands., Frenkel J; Department of Pediatrics, Wilhelmina Children's Hospital University Medical Center Utrecht Utrecht the Netherlands., van Hasselt PM; Department of Metabolic Diseases, Wilhelmina Children's Hospital University Medical Center Utrecht Utrecht the Netherlands.
Publikováno v:
JIMD reports [JIMD Rep] 2022 Nov 18; Vol. 64 (1), pp. 53-56. Date of Electronic Publication: 2022 Nov 18 (Print Publication: 2023).
Autor:
de Bode CJ; Department of Oral & Maxillofacial Surgery Erasmus MC University Medical Center Rotterdam The Netherlands., Dogterom EJ; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center Rotterdam Rotterdam The Netherlands., Rozeboom AVJ; Department of Oral & Maxillofacial Surgery Erasmus MC University Medical Center Rotterdam The Netherlands., Langendonk JJ; Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center Rotterdam Rotterdam The Netherlands., Wolvius EB; Department of Oral & Maxillofacial Surgery Erasmus MC University Medical Center Rotterdam The Netherlands., van der Ploeg AT; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center Rotterdam Rotterdam The Netherlands., Oussoren E; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center Rotterdam Rotterdam The Netherlands., Wagenmakers MAEM; Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center Rotterdam Rotterdam The Netherlands.
Publikováno v:
JIMD reports [JIMD Rep] 2022 Sep 21; Vol. 63 (6), pp. 621-629. Date of Electronic Publication: 2022 Sep 21 (Print Publication: 2022).
Autor:
Vollebregt AAM; Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands; Division of Metabolic Diseases and Genetics, Department of Pediatrics, Erasmus MC University Medical Center-Sophia, Rotterdam, The Netherlands., Hoogeveen-Westerveld M; Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Ruijter GJ; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., van den Hout H; Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands; Division of Metabolic Diseases and Genetics, Department of Pediatrics, Erasmus MC University Medical Center-Sophia, Rotterdam, The Netherlands., Oussoren E; Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands; Division of Metabolic Diseases and Genetics, Department of Pediatrics, Erasmus MC University Medical Center-Sophia, Rotterdam, The Netherlands., van der Ploeg AT; Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands; Division of Metabolic Diseases and Genetics, Department of Pediatrics, Erasmus MC University Medical Center-Sophia, Rotterdam, The Netherlands., Pijnappel WWMP; Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands; Division of Metabolic Diseases and Genetics, Department of Pediatrics, Erasmus MC University Medical Center-Sophia, Rotterdam, The Netherlands; Molecular Stem Cell Biology, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands. Electronic address: w.pijnappel@erasmusmc.nl.
Publikováno v:
The Journal of pediatrics [J Pediatr] 2022 Sep; Vol. 248, pp. 100-107.e3. Date of Electronic Publication: 2022 May 11.