Breaking the chains of lipoprotein lipase deficiency: A pediatric perspective on the efficacy and safety of Volanesorsen

Autor: den Hollander, Bibiche, Brands, Marion M., Nijhuis, Ilse J.M., Doude van Troostwijk, Lous J.A.E., van Essen, Peter, Hofsteenge, Geesje H., Koot, Bart G., Müller, Annelieke R., Tseng, Laura A., Stroes, Erik S.G., van de Ven, Peter M., Wiegman, Albert, van Karnebeek, Clara D.M.

Publikováno v: In Molecular Genetics and Metabolism May 2024 142(1)

Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM.

Autor: Müller, Annelieke R.^1,2,3,4 (AUTHOR), Luijten, Michiel A. J.^4,5,6 (AUTHOR), Haverman, Lotte^4,5,6 (AUTHOR), de Ranitz-Greven, Wendela L.⁷ (AUTHOR), Janssens, Peter⁸ (AUTHOR), Rietman, André B.⁹ (AUTHOR), ten Hoopen, Leontine W.^9,10 (AUTHOR), de Graaff, Laura C. G.¹¹ (AUTHOR), de Wit, Marie-Claire¹² (AUTHOR), Jansen, Anna C.^13,14 (AUTHOR), Gipson, Tanjala^15,16 (AUTHOR), Capal, Jamie K.^17,18 (AUTHOR), de Vries, Petrus J.¹⁹ (AUTHOR), van Eeghen, Agnies M.^1,2,4,6 (AUTHOR) a.m.vaneeghen@amsterdamumc.nl

Publikováno v: BMC Medicine. 10/5/2023, Vol. 21 Issue 1, p1-15. 15p.

Correction: Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM.

Autor: Müller, Annelieke R.^1,2,3,4 (AUTHOR), Luijten, Michiel A. J.^4,5,6 (AUTHOR), Haverman, Lotte^4,5,6 (AUTHOR), de Ranitz-Greven, Wendela L.⁷ (AUTHOR), Janssens, Peter⁸ (AUTHOR), Rietman, André B.⁹ (AUTHOR), Hoopen, Leontine W.ten^9,10 (AUTHOR), de Graaff, Laura C. G.¹¹ (AUTHOR), de Wit, Marie-Claire¹² (AUTHOR), Jansen, Anna C.^13,14 (AUTHOR), Gipson, Tanjala^15,16 (AUTHOR), Capal, Jamie K.^17,18 (AUTHOR), de Vries, Petrus J.¹⁹ (AUTHOR), van Eeghen, Agnies M.^1,2,4,6 (AUTHOR) a.m.vaneeghen@amsterdamumc.nl

Publikováno v: BMC Medicine. 10/23/2023, Vol. 21 Issue 1, p1-1. 1p.

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Navigating the outcome maze: a scoping review of outcomes and instruments in clinical trials in genetic neurodevelopmental disorders and intellectual disability.

Autor: Müller AR; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; Advisium, 's Heeren Loo, Amersfoort, Utrecht, The Netherlands.; Amsterdam Public Health Research Institute, Amsterdam, The Netherlands.; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, The Netherlands., van Silfhout NY; Amsterdam Public Health Research Institute, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development, Child Development, Amsterdam, The Netherlands.; Emma Children's Hospital, Child and Adolescent Psychiatry & Psychosocial Care, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands., den Hollander B; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, The Netherlands.; United for Metabolic Diseases, Amsterdam, The Netherlands., Kampman DHC; Faculty of Science, Operational Management, ICT Department, Utrecht University, Utrecht, The Netherlands., Bakkum L; Amsterdam Public Health Research Institute, Amsterdam, The Netherlands.; Department of Clinical Child and Family Studies, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Brands MMMG; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development, Child Development, Amsterdam, The Netherlands.; United for Metabolic Diseases, Amsterdam, The Netherlands., Haverman L; Amsterdam Public Health Research Institute, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development, Child Development, Amsterdam, The Netherlands.; Emma Children's Hospital, Child and Adolescent Psychiatry & Psychosocial Care, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands., Terwee CB; Amsterdam Public Health Research Institute, Amsterdam, The Netherlands.; Epidemiology and Data Science, Amsterdam UMC Location Vrije Universiteit, Amsterdam, The Netherlands., Schuengel C; Amsterdam Public Health Research Institute, Amsterdam, The Netherlands.; Department of Clinical Child and Family Studies, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Daams J; Medical Library, Research Support, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands., Hessl D; MIND Institute and Department of Psychiatry and Behavioral Sciences, University of California Davis, Sacramento, CA, USA., Wijburg FA; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands., Boot E; Advisium, 's Heeren Loo, Amersfoort, Utrecht, The Netherlands.; The Dalglish Family 22q Clinic, Toronto, ON, Canada.; Department of Psychiatry & Neuropsychology, Maastricht University Medical Center, Maastricht, The Netherlands., van Eeghen AM; Emma Center for Personalized Medicine, Amsterdam UMC, Meibergdreef 9, Amsterdam, 1105 AZ, The Netherlands.; Advisium, 's Heeren Loo, Berkenweg 11, 3818 LA, Amersfoort, The Netherlands.; Amsterdam Public Health Research Institute, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Reproduction & Development, Child Development, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

Publikováno v: Therapeutic advances in rare disease [Ther Adv Rare Dis] 2024 Apr 25; Vol. 5, pp. 26330040241245721. Date of Electronic Publication: 2024 Apr 25 (Print Publication: 2024).