Tom J de Koning

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2006
Mark Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation
Wortmann, S. ; Rodenburg, R. J.T. ; Huizing, M. ; Loupatty, F. J. ; de Koning, T. ^LU ; Kluijtmans, L. A.J. ; Engelke, U. ; Wevers, R. ; Smeitink, J. A.M. and Morava, E. (2006) In Molecular Genetics and Metabolism 88(1). p.47-52
- Contribution to journal › Article
2005
Mark The intake of total protein, natural protein and protein substitute and growth of height and head circumference in Dutch infants with phenylketonuria
Hoeksma, M. ; van Rijn, M. ; Verkerk, P. H. ; Bosch, A. M. ; Mulder, M. F. ; de Klerk, J. B.C. ; de Koning, T. J. ^LU ; Rubio-Gozalbo, E. ; de Vries, M. and Sauer, P. J.J. , et al. (2005) In Journal of Inherited Metabolic Disease 28(6). p.845-854
- Contribution to journal › Article
Mark Ornithine aminotransferase deficiency : Diagnostic difficulties in neonatal presentation
Cleary, M. A. ; Dorland, L. ; de Koning, T. J. ^LU ; Poll-The, B. T. ; Duran, M. ; Mandell, R. ; Shih, V. E. ; Berger, R. ; Olpin, S. E. and Besley, Guy T.N. (2005) In Journal of Inherited Metabolic Disease 28(5). p.673-679
- Contribution to journal › Article
Mark Prolonged exercise testing in two children with a mild Multiple Acyl-CoA-Dehydrogenase deficiency
Takken, T. ; Custers, J. W.H. ; Visser, G. ; Dorland, L. ; Helders, P. J.M. and De Koning, T. J. ^LU (2005) In Nutrition & Metabolism 2.
- Contribution to journal › Article
Mark D-Amino acids in the central nervous system in health and disease
Fuchs, Sabine A. ; Berger, Ruud ; Klomp, Leo W.J. and De Koning, Tom J. ^LU (2005) In Molecular Genetics and Metabolism 85(3). p.168-180
- Contribution to journal › Scientific review
2004
Mark Glutathione synthetase deficiency associated with antenatal cerebral bleeding
Br̈ggemann, L. W. ; Groenendaal, F. ; Ristoff, E. ; Larsson, A. ; Duran, M. ; van Lier, J. A.C. ; Dorland, L. ; Berger, R. and de Koning, T. J. ^LU (2004) In Journal of Inherited Metabolic Disease 27(2). p.275-276
- Contribution to journal › Article
Mark Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhood
Roeleveld-Versteegh, Angelique B.C. ; Braun, K. P.J. ; Smeitink, J. A.M. ; Dorland, L. and de Koning, T. J. ^LU (2004) In Journal of Inherited Metabolic Disease 27(2). p.281-283
- Contribution to journal › Article
Mark Serine-deficiency syndromes
De Koning, Tom J. ^LU and Klomp, Leo W.J. (2004) In Current Opinion in Neurology 17(2). p.197-204
- Contribution to journal › Scientific review
Mark Energy expenditure in patients with propionic and methylmalonic acidaemias
van Hagen, C. C. ; Carbasius Weber, E. ; van den Hurk, Th A.M. ; Oudshoorn, J. H. ; Dorland, L. ; Berger, R. and de Koning, T. ^LU (2004) In Journal of Inherited Metabolic Disease 27(1). p.111-112
- Contribution to journal › Article
Mark Deficiency of GDP-Man:GlcNAc₂-PP-Dolichol Mannosyltransferase Causes Congenital Disorder of Glycosylation Type Ik
Schwarz, Markus ; Thiel, Christian ; Lübbehusen, Jürgen ; Dorland, Bert ; De Koning, Tom ^LU ; Von Figura, Kurt ; Lehle, Ludwig and Körner, Christian (2004) In American Journal of Human Genetics 74(3). p.472-481
- Contribution to journal › Article

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