학술논문
'학술논문'
에서 검색결과 84건 | 목록
1~10
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
Schwantje, M.; Fuchs, S.A.; Visser, G.; Ferdinandusse, S.; Ijlst, L.; Houtkooper, R.H.; Wanders, R.J.A.; de Boer, L.; de Vries, M.C.; Bosch, A.M.; Wijburg, F.; Cuppen, I.; van der Pol, W.L.; Dekkers, E.; Maase, R.; Derks, T.G.J.; Verschoof-Puite, R.K.; Williams, M.
In: Journal of Inherited Metabolic Disease . (Journal of Inherited Metabolic Disease, July 2022, 45(4):804-818)
Academic Journal
Ghosh, A.; Tylee, K.; Wraith, J.E.; Jones, S.A.; Langford-Smith, K.; O'Leary, C.; Parker, H.; Bigger, B.W.; Rust, S.; Weisberg, D.; Canal, M.; Breen, C.; Hepburn, M.; Vaz, F.M.; Vail, A.; Wijburg, F.
In: Journal of Inherited Metabolic Disease . (Journal of Inherited Metabolic Disease, September 2021, 44(5):1248-1262)
Academic Journal
Bergen, A.A.; Buijs, M.J.N.; ten Asbroek, A.L.M.A.; Boon, C.J.F.; Diederen, R.R.M.H.; Brands, M.M.; van Karnebeek, C.D.M.; Houtkooper, R.H.; Vaz, F.M.; Wijburg, F.; Balfoort, B.M.; Ferreira, E.A.; Wanders, R.J.A.; Ferdinandusse, S.; Waterham, H.R.; Schultink, P.; Timmer, C.; Verhaagen, J.; Wagenmakers, M.A.E.M.
In: EMBO Molecular Medicine . (EMBO Molecular Medicine, 16 January 2024, 16(1):4-7)
Academic Journal
Clarke, L.; Ellaway, C.; Foster, H.E.; Giugliani, R.; Goizet, C.; Goring, S.; Khan, Z.; McMullen, S.; Hawley, S.; Jurecki, E.; Mubarack, F.; Lampe, C.; Martin, K.; Mitchell, J.J.; Sivri, H.S.; Solano Villarreal, M.; Stewart, F.J.; Tylki-Szymanska, A.; White, K.; Wijburg, F.
In: Journal of Inborn Errors of Metabolism and Screening . (Journal of Inborn Errors of Metabolism and Screening, 21 September 2018, 7)
Academic Journal
In: Biochimica et Biophysica Acta - Molecular Basis of Disease . (Biochimica et Biophysica Acta - Molecular Basis of Disease, September 2017, 1863(9):2255-2265)
Academic Journal
Suntjens, E.; Dreschler, W.; Hess-Erga, J.; Skrunes, R.; Wijburg, F.; Linthorst, G.; Tøndel, C.; Biegstraaten, M.
Journal of Inherited Metabolic Disease; Sep2017, Vol. 40 Issue 5, p725-731, 7p
Academic Journal
Meijer, O.; Welling, L.; Valstar, M.; Hoefsloot, L.; Brüggenwirth, H.; Ploeg, A.; Ruijter, G.; Wagemans, T.; Wijburg, F.; Vlies, N.
Journal of Inherited Metabolic Disease; May2016, Vol. 39 Issue 3, p437-445, 9p
Academic Journal
In: Molecular Genetics and Metabolism . (Molecular Genetics and Metabolism, July 2012, 106(3):330-344)
Academic Journal
D'Aco, K.; Kaplan, P.; Underhill, L.; Rangachari, L.; Cox, G.F.; Arn, P.; Giugliani, R.; Okuyama, T.; Wijburg, F.
In: European Journal of Pediatrics . (European Journal of Pediatrics, June 2012, 171(6):911-919)
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제한된 항목
[AR] Wijburg, F.
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