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2014
Mark Survival and psychomotor development with early betaine treatment in patients with severe methylenetetrahydrofolate reductase deficiency
Diekman, Eugene F. ; De Koning, Tom J. ^LU ; Verhoeven-Duif, Nanda M. ; Rovers, Maroeska M. and Van Hasselt, Peter M. (2014) In JAMA Neurology 71(2). p.188-194
- Contribution to journal › Article
Mark Periodic fever in MVK deficiency : A patient initially diagnosed with incomplete Kawasaki disease
Thors, Valtyr S. ; Vastert, Sebastiaan J. ; Wulffraat, Nico ; Van Royen, Annet ; Frenkel, Joost ; De Sain-Van Der Velden, Monique and De Koning, Tom J. ^LU (2014) In Pediatrics 133(2).
- Contribution to journal › Article
Mark Ramsay hunt syndrome : Clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation
van Egmond, Martje E. ; Verschuuren-Bemelmans, Corien C. ; Nibbeling, Esther A. ; Elting, Jan Willem J. ; Sival, Deborah A. ; Brouwer, Oebele F. ; de Vries, Jeroen J. ; Kremer, Hubertus P. ; Sinke, Richard J. and Tijssen, Marina A. , et al. (2014) In Movement Disorders 29(1). p.139-143
- Contribution to journal › Article
Mark Impaired cognitive functioning in patients with tyrosinemia type i receiving nitisinone
Bendadi, Fatiha ; De Koning, Tom J. ^LU ; Visser, Gepke ; Prinsen, Hubertus C.M.T. ; De Sain, Monique G.M. ; Verhoeven-Duif, Nanda ; Sinnema, Gerben ; Van Spronsen, Francjan J. and Van Hasselt, Peter M. (2014) In Journal of Pediatrics 164(2). p.398-401
- Contribution to journal › Article
2013
Mark High incidence of symptomatic hyperammonemia in children with acute lymphoblastic leukemia receiving pegylated asparaginase
Heitink-Pollé, Katja M.J. ; Prinsen, Berthil H.C.M.T. ; de Koning, Tom J. ^LU ; van Hasselt, Peter M. and Bierings, Marc B. (2013) In JIMD Reports 7. p.103-108
- Chapter in Book/Report/Conference proceeding › Book chapter
Mark Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency
Diekman, Eugène F. ; Boelen, Carolien C.A. ; Prinsen, Berthil H.C.M.T. ; IJlst, Lodewijk ; Duran, Marinus ; de Koning, Tom J. ^LU ; Waterham, Hans R. ; Wanders, Ronald J.A. ; Wijburg, Frits A. and Visser, Gepke (2013) In JIMD Reports 7. p.1-6
- Chapter in Book/Report/Conference proceeding › Book chapter
Mark Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria
Veiga-Da-Cunha, Maria ; Verhoeven-Duif, Nanda M. ; De Koning, Tom J. ^LU ; Duran, Marinus ; Dorland, Bert and Van Schaftingen, Emile (2013) In Journal of Inherited Metabolic Disease 36(6). p.961-966
- Contribution to journal › Article
Mark D-amino acid aberrations in cerebrospinal fluid and plasma of smokers
Luykx, Jurjen J. ; Bakker, Steven C. ; Van Boxmeer, Loes ; Vinkers, Christiaan H. ; Smeenk, Hanne E. ; Visser, Wouter F. ; Verhoeven-Duif, Nanda M. ; Strengman, Eric ; Buizer-Voskamp, Jacobine E. and De Groene, Lizzy , et al. (2013) In Neuropsychopharmacology 38(10). p.2019-2026
- Contribution to journal › Article
Mark An update on serine deficiency disorders
Van Der Crabben, S. N. ; Verhoeven-Duif, N. M. ; Brilstra, E. H. ; Van Maldergem, L. ; Coskun, T. ; Rubio-Gozalbo, E. ; Berger, R. and De Koning, T. J. ^LU (2013) In Journal of Inherited Metabolic Disease 36(4). p.613-619
- Contribution to journal › Article
Mark Amino acid synthesis deficiencies
De Koning, T. J. ^LU (2013) In Handbook of Clinical Neurology 113. p.1775-1783
- Chapter in Book/Report/Conference proceeding › Book chapter

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