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Frits A. Wijburg

university of amsterdam

73H-index
413Paper Count
1.9WCitation Count
Published Papers 176
Publication Date
Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review
err2024-09-16
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errMuller, Annelieke R.; Boot, Erik; Notermans, Stijn B.; Schuengel, Carlo; Henneman, Lidewij; Cornel, Martina C.; van Haelst, Mieke M.; Alders, Marielle; van Karnebeek, Clara D. M.; Bijl, Bas; Wijburg, Frits A.; van Eeghen, Agnies M.
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Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials
err2024-01-04
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errMueller, A. R.; den Hollander, B.; van de Ven, P. M.; Roes, K. C. B.; Geertjens, L.; Bruining, H.; van Karnebeek, C. D. M.; Jansen, F. E.; de Wit, M. C. Y.; ten Hoopen, L. W.; Rietman, A. B.; Dierckx, B.; Wijburg, F. A.; Boot, E.; Brands, M. M. G.; van Eeghen, A. M.
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Vision on gyrate atrophy: why treat the eye?
err2023-12-14
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errBergen, Arthur A.; Buijs, Mark J. N.; ten Asbroek, Anneloor L. M. A.; Balfoort, Berith M.; Boon, Camiel J. F.; Diederen, Roselie R. M. H.; Ferdinandusse, Sacha; Ferreira, Elise A.; Schultink, Patrick; Timmer, Corrie; Vaz, Frederic M.; Verhaagen, Joost; Wagenmakers, Margreet A. E. M.; Waterham, Hans R.; Wijburg, Frits; Brands, Marion M.; Wanders, Ronald J. A.; van Karnebeek, Clara D. M.; Houtkooper, Riekelt H.
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A framework for evaluating long-term impact of newborn screening ( oct , 2023 , 10.1038/s41431-023-01469-8)
err2023-11-29
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errKalkman, Shona; Wevers, Ron A.; Wijburg, Frits A.; Leeflang, Mariska M. G.
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A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening
err2023-10-11
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errVeldman, Abigail; Kiewiet, M. B. Gea; Westra, Dineke; Bosch, Annet M.; Brands, Marion M. G.; de Coo, Rene I. F. M.; Derks, Terry G. J.; Fuchs, Sabine A.; van den Hout, Johanna. M. P.; Huidekoper, Hidde H.; Kluijtmans, Leo A. J.; Koop, Klaas; Lubout, Charlotte M. A.; Mulder, Margaretha F.; Panis, Bianca; Rubio-Gozalbo, M. Estela; de van der Velden, Monique G.; Schaefers, Jaqueline; Schreuder, Andrea B.; Visser, Gepke; Wevers, Ron A.; Wijburg, Frits A.; Heiner-Fokkema, M. Rebecca; van Spronsen, Francjan J.
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A framework for evaluating long-term impact of newborn screening
err2023-10-03
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errKalkman, Shona; Wevers, Ron A.; Wijburg, Frits A.; Leeflang, Mariska M. G.
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Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study
err2023-07-24
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errCrefcoeur, Loek; Ferdinandusse, Sacha; van der Crabben, Saskia N.; Dekkers, Eugenie; Fuchs, Sabine A.; Huidekoper, Hidde; Janssen, Mirian; Langendonk, Janneke; Maase, Rose; de Sain, Monique; Rubio, Estela; van Spronsen, Francjan J.; Vaz, Frederic Maxime; Verschoof, Rendelien; de Vries, Maaike; Wijburg, Frits; Visser, Gepke; Langeveld, Mirjam
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Focal lesions following intracerebral gene therapy for mucopolysaccharidosis IIIA
err2023-05-11
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errBugiani, Marianna; Abbink, Truus E. M.; Edridge, Arthur W. D.; van der Hoek, Lia; Hillen, Anne E. J.; van Til, Niek P.; Hu-A-Ng, Gino V.; Breur, Marjolein; Aiach, Karen; Drevot, Philippe; Hocquemiller, Michael; Laufer, Ralph; Wijburg, Frits A.; van der Knaap, Marjo S.
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Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy
err2022-12-06
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errCoughlin, Curtis A.; Tseng, Laura A.; Bok, Levinus; Hartmann, Hans; Footitt, Emma; Striano, Pasquale; Tabarki, Brahim M.; Lunsing, Roelineke J.; Stockler-Ipsiroglu, Sylvia; Gordon, Shanlea; Van Hove, Johan L. K.; Abdenur, Jose E.; Boyer, Monica; Longo, Nicola; Andrews, Ashley; Janssen, Mirian C. H.; van Wegberg, Annemiek; Prasad, Chitra; Prasad, Asuri N.; Lamb, Molly M.; Wijburg, Frits A.; Gospe, Sidney M., Jr.; van Karnebeek, Clara
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Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy
err2022-04-01
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errTseng, Laura A.; Abdenur, Jose E.; Andrews, Ashley; Aziz, Verena G.; Bok, Levinus A.; Boyer, Monica; Buhas, Daniela; Hartmann, Hans; Footitt, Emma J.; Gronborg, Sabine; Janssen, Mirian C. H.; Longo, Nicola; Lunsing, Roelineke J.; MacKenzie, Alex E.; Wijburg, Frits A.; Gospe, Sidney M., Jr.; Coughlin, Curtis R., II; van Karnebeek, Clara D. M.
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Understanding disease symptoms and impacts and producing qualitatively-derived severity stages for MPS IIIA: a mixed methods approach
err2022-02-22
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errLanar, Sally; Parker, Samantha; O'Neill, Cara; Marrel, Alexia; Arnould, Benoit; Heron, Benedicte; Muschol, Nicole; Wijburg, Frits A.; Chakrapani, Anupam; Olivier, Sophie; Aiach, Karen
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An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA
err2022-02-01
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errWijburg, Frits A.; Aiach, Karen; Chakrapani, Anupam; Eisengart, Julie B.; Giugliani, Roberto; Heron, Benedicte; Muschol, Nicole; O'Neill, Cara; Olivier, Sophie; Parker, Samantha
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Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progression
err2022-02-01
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errvan der Veen, S. J.; Korver, S.; Hirsch, A.; Hollak, C. E. M.; Wijburg, F. A.; Brands, M. M.; Tondel, C.; van Kuilenburg, A. B. P.; Langeveld, M.
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Long-term safety and clinical outcomes of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A
err2021-12-01
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errWijburg, Frits A.; Heap, Fiona; Rust, Stewart; de Ruijter, Jessica; Tump, Evelien; Marchal, Jan Pieter; Nestrasil, Igor; Shapiro, Elsa; Jones, Simon A.; Alexanderian, David
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Methylphenidate for attention-deficit/hyperactivity disorder in patients with Smith-Magenis syndrome: protocol for a series of N-of-1 trials
err2021-09-08
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errMuller, A. R.; Zinkstok, J. R.; Rommelse, N. N. J.; van de Ven, P. M.; Roes, K. C. B.; Wijburg, F. A.; de Rooij-Askes, E.; Linders, C.; Boot, E.; van Eeghen, A. M.
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A multicenter open-label extension study of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A
err2021-09-01
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errWijburg, Frits A.; Whitley, Chester B.; Muenzer, Joseph; Gasperini, Serena; del Toro, Mireia; Muschol, Nicole; Cleary, Maureen; Sevin, Caroline; Shapiro, Elsa; Alexanderian, David
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Systematic Review of N-of-1 Studies in Rare Genetic Neurodevelopmental Disorders The Power of 1
err2021-03-16
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errMueller, Annelieke R.; Brands, Marion M. M. G.; van de Ven, Peter M.; Roes, Kit C. B.; Cornel, Martina C.; van Karnebeek, Clara D. M.; Wijburg, Frits A.; Daams, Joost G.; Boot, Erik; van Eeghen, Agnies M.
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Exploring the metabolic fate of medium-chain triglycerides in healthy individuals using a stable isotope tracer
err2021-03-01
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PREAI
errKnottnerus, Suzan J. G.; van Harskamp, Dewi; Schierbeek, Henk; Bleeker, Jeannette C.; Crefcoeur, Loek L.; Ferdinandusse, Sacha; van Goudoever, Johannes B.; Houtkooper, Riekelt H.; IJlst, Lodewijk; Langeveld, Mirjam; Wanders, Ronald J. A.; Vaz, Frederic M.; Wijburg, Frits A.; Visser, Gepke
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