학술논문
'학술논문'
에서 검색결과 264건 | 목록
1~10
Academic Journal
Vaz, F.M.; van Klinken, J.B.; van Lenthe, H.; Vervaart, M.; Wanders, R.J.A.; Pras-Raves, M.L.; van Weeghel, M.; Salomons, G.S.; Ferdinandusse, S.; Wevers, R.A.; Willemsen, M.A.A.P.; Staps, P.
In: Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids . (Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids, March 2024, 1869(2))
Academic Journal
Schwantje, M.; Mosegaard, S.; Knottnerus, S.J.G.; Wanders, R.J.; van Lenthe, H.; IJlst, L.; Denis, S.W.; Jaspers, Y.R.J.; Houtkooper, R.H.; Ferdinandusse, S.; Vaz, F.M.; Fuchs, S.A.; van Klinken, J.B.; Hermans, J.
In: FASEB Journal . (FASEB Journal, 29 February 2024, 38(4))
Academic Journal
In: European Journal of Medical Genetics . (European Journal of Medical Genetics, December 2023, 66(12))
Academic Journal
Alabdulrazzaq, F.; Abdullah, A.; Marafi, D.; Alanzi, T.; Al-Balool, H.H.; Aladwani, A.; Aboelanine, A.H.; Alwadani, A.; Bastaki, L.; Gardham, A.; Leitch, H.G.; Wakeling, E.; AlSayed, M.; Abdulrahim, M.; Romito, A.; Kampe, K.; Bertoli-Avella, A.M.; Ferdinandusse, S.; Vaz, F.M.
In: Molecular Genetics and Genomic Medicine . (Molecular Genetics and Genomic Medicine, December 2023, 11(12))
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
Waterham, H.R.; Koster, J.; Ebberink, M.S.; Wanders, R.J.A.; Ferdinandusse, S.; Ješina, P.; Zeman, J.; Nosková, L.; Kmoch, S.; Devic, P.; Cheillan, D.
In: Genetics in Medicine . (Genetics in Medicine, November 2023, 25(11))
Academic Journal
Berner, J.; van de Wetering, C.; Jimenez Heredia, R.; Rashkova, C.; Frohne, A.; Giuliani, S.; Castanon, I.; Boztug, K.; Ferdinandusse, S.; Koster, J.; Waterham, H.R.; Weiss, J.G.; Brunner, J.
In: Journal of Allergy and Clinical Immunology . (Journal of Allergy and Clinical Immunology, October 2023, 152(4):1025-1031.e2)
Academic Journal
Albersen, M.; Boelen, A.; Heijboer, A.C.; Metgod, I.; van der Beek, S.L.; Visser, W.F.; Dijkstra, I.M.E.; Barendsen, R.W.; Ebberink, M.S.; Ferdinandusse, S.; Goorden, S.M.I.; Jaspers, Y.R.J.; Salomons, G.S.; Vaz, F.M.; Kemp, S.; Alders, M.; Bliek, J.; Jansen, M.; Verschoof-Puite, R.K.; Engelen, M.; Dekkers, E.
In: Journal of Inherited Metabolic Disease . (Journal of Inherited Metabolic Disease, January 2023, 46(1):116-128)
Book
Stolwijk, N.N.; Jacobs, B.A.W.; Hollak, C.E.M.; Langeveld, M.; Haverkamp, J.A.; Vogt, L.; Ferdinandusse, S.
(JIMD Reports, September 2022, 63(5):407-413)
Academic Journal
Engelen, M.; Van Ballegoij, W.J.C.; Köhler, W.; Huffnagel, I.C.; Mallack, E.J.; Van Haren, K.P.; Salsano, E.; Van Trotsenburg, A.S.P.; Mochel, F.; Sevin, C.; Regelmann, M.O.; Tritos, N.A.; Halper, A.; Lachmann, R.H.; Davison, J.; Raymond, G.V.; Lund, T.C.; Orchard, P.J.; Kuehl, J.-S.; Lindemans, C.A.; Caruso, P.; Turk, B.R.; Fatemi, A.; Moser, A.B.; Vaz, F.M.; Ferdinandusse, S.; Kemp, S.; Eichler, F.S.
In: Neurology . (Neurology, 22 November 2022, 99(21):940-951)
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[AR] Ferdinandusse, S.
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