학술논문
'학술논문'
에서 검색결과 293건 | 목록
1~10
Academic Journal
Strijker, M.; Tseng, L.A.; van Avezaath, L.K.; Oude Luttikhuis, M.A.M.; Ketelaar, T.; Coughlin, C.R., II; Coenen, M.A.; van Spronsen, F.J.; Williams, M.; de Vries, M.C.; Westerlaan, H.E.; Bok, L.A.; van Karnebeek, C.D.M.; Lunsing, R.J.
In European Journal of Paediatric Neurology July 2021 33:112-120
Academic Journal
van Wegberg, A.M.J.; Jahja, R.; van Spronsen, F.J.; van der Weerd, J.C.; Heiner-Fokkema, M.R.; Engelke, U.F.H.; Wevers, R.A.; Coene, K.L.M.; Bakker, S.J.L.; Huijbregts, S.C.J.
In: Journal of Inherited Metabolic Disease . (Journal of Inherited Metabolic Disease, July 2024, 47(4):624-635)
Academic Journal
Feillet, F.; Ficicioglu, C.; Lagler, F.B.; Longo, N.; Muntau, A.C.; Burlina, A.; Trefz, F.K.; van Spronsen, F.J.; Arnoux, J.-B.; Lindstrom, K.; Lilienstein, J.; Clague, G.E.; Rowell, R.; Burton, B.K.
In: Journal of Inherited Metabolic Disease . (Journal of Inherited Metabolic Disease, July 2024, 47(4):636-650)
Academic Journal
Kuypers, A.M.; Vliet, K.E.-V.; van Spronsen, F.J.; Heiner-Fokkema, M.R.; MacDonald, A.; Ahring, K.; Abeln, D.; Ford, S.; Hildebrandt-Karlsen, S.
In: Molecular Genetics and Metabolism . (Molecular Genetics and Metabolism, May 2024, 142(1))
Academic Journal
Eskandari, S.K.; de Boer, F.; van Spronsen, F.J.; Lubout, C.M.A.; Revenich, E.G.M.; Bierings, M.; van Hasselt, P.M.; Lindemans, C.A.; Pot, D.J.
In: New England Journal of Medicine . (New England Journal of Medicine, 15 February 2024, 390(7):623-629)
Academic Journal
Veldman, A.; Derks, T.G.J.; Lubout, C.M.A.; Schreuder, A.B.; van Spronsen, F.J.; Kiewiet, M.B.G.; Westra, D.; Bosch, A.M.; Brands, M.M.G.; Mulder, M.F.; Visser, G.; Wijburg, F.A.; de Coo, R.I.F.M.; Fuchs, S.A.; Koop, K.; van den Hout, J.M.P.; Huidekoper, H.H.; Kluijtmans, L.A.J.; Wevers, R.A.; Panis, B.; Schaefers, J.; Rubio-Gozalbo, M.E.; de Sain-van der Velden, M.G.; Heiner-Fokkema, M.R.
In: International Journal of Neonatal Screening . (International Journal of Neonatal Screening, December 2023, 9(4))
Academic Journal
Dijkstra, A.M.; Evers-van Vliet, K.; van Spronsen, F.J.; Lubout, C.M.A.; Heiner-Fokkema, M.R.; Bodewes, F.A.J.A.; Bos, D.K.; Zsiros, J.; van Aerde, K.J.; Koop, K.
In: International Journal of Neonatal Screening . (International Journal of Neonatal Screening, December 2023, 9(4))
Newborn screening for primary carnitine deficiency: Who will benefit? - A retrospective cohort study
Academic Journal
Crefcoeur, L.; Fuchs, S.A.; Visser, G.; Ferdinandusse, S.; Wijburg, F.; Van Der Crabben, S.N.; Dekkers, E.; Huidekoper, H.; Janssen, M.; Langendonk, J.; Maase, R.; De Sain, M.; Rubio, E.; Van Spronsen, F.J.; Vaz, F.M.; Verschoof, R.; De Vries, M.; Langeveld, M.
In: Journal of Medical Genetics . (Journal of Medical Genetics, 1 December 2023, 60(12):1177-1185)
Academic Journal
Stolwijk, N.N.; Bouwhuis, N.; Hollak, C.E.M.; Langeveld, M.; Bosch, A.M.; Häberle, J.; van Karnebeek, C.; van Spronsen, F.J.
In: Journal of Inherited Metabolic Disease . (Journal of Inherited Metabolic Disease, November 2023, 46(6):1017-1028)
Academic Journal
van Vliet, K.; Dijkstra, A.M.; van Spronsen, F.J.; Bouva, M.J.; Kiewiet, M.B.G.; van der Krogt, J.; Bijsterveld, K.; van der Sluijs, F.; Heiner-Fokkema, M.R.; de Sain-van der Velden, M.G.; Koop, K.; Rossi, A.; Thomas, J.A.; Patera, C.A.; Waters, P.J.; Cyr, D.; Boelen, A.
In: Journal of Inherited Metabolic Disease . (Journal of Inherited Metabolic Disease, November 2023, 46(6):1104-1113)
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[AR] van Spronsen, F.J.
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