Modeling cartilage pathology in mucopolysaccharidosis VI using iPSCs reveals early dysregulation of chondrogenic and metabolic gene expression

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

The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey.

Autor: Stepien KM; Adult Inherited Metabolic Diseases, Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Salford, UK., Langendonk JG; Center for Lysosomal and Metabolic Disease, Department of Internal Medicine, Erasmus MC, Erasmus University Medical Center Rotterdam, Rotterdam, The Netherlands., Dao M; Reference Center for Inherited Metabolic MaMEA, Hôpital Necker-Enfants Malades, Paris, France., Gomes DC; Reference Center for Inherited Metabolic Disorders, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal., Douillard C; Service d'endocrinologie et des Maladies Métaboliques, Reference Center for Inherited Metabolic, Centre Hospitalier Universitaire de Lille, Lille, France., Filipsson K; Department of Endocrinology, Skane University Hospital, Lund, Sweden., Glamuzina E; Adult and Paediatric National Metabolic Service, Starship Children's Hospital, Auckland, New Zealand., Haverkamp JA; Department Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Langeveld M; Department Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Lehman A; Adult Metabolic Diseases Clinic, Vancouver General Hospital, University of British Columbia, Vancouver, Canada., de Lonlay P; Reference Center for Inherited Metabolic MaMEA, Hôpital Necker-Enfants Malades, Paris, France., Lund AM; Centre for Inherited Metabolic Diseases, Departments of Paediatrics and Adolescent Medicine and Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark., Oscarson M; Center of Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden., Peltenburg NC; Center for Lysosomal and Metabolic Disease, Department of Internal Medicine, Erasmus MC, Erasmus University Medical Center Rotterdam, Rotterdam, The Netherlands., Ramadža DP; Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia., Ramachandran R; Metabolic Medicine, Guy's and St Thomas' NHS Foundation Trust, London, UK., Reismann P; Department of Internal Medicine and Oncology, Semmelweis University, Budapest, Hungary., Shtylla A; Department of Endocrinology and Metabolism, Heidelberg University Hospital, Heidelberg, Germany., Tchan M; Department of Genetic Medicine, Westmead Hospital, Sydney, Australia., Tan CY; Adult Inherited Metabolic Disorder and Lysosomal Disorders Unit, Addenbrooke's Hospital, Cambridge, UK., Wilson C; Adult and Paediatric National Metabolic Service, Starship Children's Hospital, Auckland, New Zealand., Woodall A; Adult Inherited Metabolic Diseases, Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Salford, UK., Murphy E; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK., Wagenmakers MAEM; Center for Lysosomal and Metabolic Disease, Department of Internal Medicine, Erasmus MC, Erasmus University Medical Center Rotterdam, Rotterdam, The Netherlands.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Nov; Vol. 47 (6), pp. 1239-1259. Date of Electronic Publication: 2023 Dec 09.

Extending diagnostic practices in gyrate atrophy: Enzymatic characterization and the development of an in vitro pyridoxine responsiveness assay.

Autor: Balfoort BM; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam, University of Amsterdam, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands., Pampalone G; Department of Medicine and Surgery, University of Perugia, Perugia, Italy., Ruiter JPN; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Denis SW; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Brands MM; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands., Timmer C; Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Wagenmakers MAEM; Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases, Erasmus MC, Erasmus University Medical Center Rotterdam, Rotterdam, the Netherlands; United for Metabolic Diseases, the Netherlands., Wanders RJA; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands., van Karnebeek CD; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, the Netherlands; Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam, University of Amsterdam, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands., Cellini B; Department of Medicine and Surgery, University of Perugia, Perugia, Italy., Houtkooper RH; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, the Netherlands; Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam, University of Amsterdam, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands., Ferdinandusse S; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam, University of Amsterdam, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands. Electronic address: s.ferdinandusse@amsterdamumc.nl.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2024 Sep-Oct; Vol. 143 (1-2), pp. 108542. Date of Electronic Publication: 2024 Jul 19.

Quality of life in children with erythropoietic protoporphyria: a case-control study.

Autor: Kluijver LG; Department of Internal Medicine, Porphyria Center Rotterdam, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., Wensink D; Department of Internal Medicine, Porphyria Center Rotterdam, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., Wagenmakers MAEM; Department of Internal Medicine, Porphyria Center Rotterdam, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., Huidekoper HH; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., Witters P; Department of Pediatrics, Center for Metabolic Diseases, University Hospitals Leuven, Leuven, Belgium.; Department of Development and Regeneration, KU Leuven, Leuven, Belgium., Rymen D; Department of Pediatrics, Center for Metabolic Diseases, University Hospitals Leuven, Leuven, Belgium.; Department of Development and Regeneration, KU Leuven, Leuven, Belgium., Langendonk JG; Department of Internal Medicine, Porphyria Center Rotterdam, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.

Publikováno v: The Journal of dermatology [J Dermatol] 2024 Aug; Vol. 51 (8), pp. 1068-1078. Date of Electronic Publication: 2024 Jun 26.

Long-term benefits of physical activity in adult patients with late onset Pompe disease: a retrospective cohort study with 10 years of follow-up.

Autor: Ismailova G; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Sophia Children's Hospital, Mailbox 2060, 3000 CB, Rotterdam, The Netherlands., Wagenmakers MAEM; Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Mailbox 2040, 3000 CA, Rotterdam, The Netherlands., Brusse E; Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Mailbox 2040, 3000 CA, Rotterdam, The Netherlands., van der Ploeg AT; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Sophia Children's Hospital, Mailbox 2060, 3000 CB, Rotterdam, The Netherlands., Favejee MM; Department of Physical Therapy, Erasmus Medical Center, Mailbox 2040, 3000 CA, Rotterdam, The Netherlands., van der Beek NAME; Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Mailbox 2040, 3000 CA, Rotterdam, The Netherlands., van den Berg LEM; Department of Orthopedics and Sports Medicine, Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Sophia Children's Hospital, Mailbox 2060, 3000 CB, Rotterdam, The Netherlands. l.e.m.vandenberg@erasmusmc.nl.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Oct 11; Vol. 18 (1), pp. 319. Date of Electronic Publication: 2023 Oct 11.