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2011
Mark Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency
Tabatabaie, L. ; Klomp, L. W.J. ; Rubio-Gozalbo, M. E. ; Spaapen, L. J.M. ; Haagen, A. A.M. ; Dorland, L. and De Koning, T. J. ^LU (2011) In Journal of Inherited Metabolic Disease 34(1). p.181-184
- Contribution to journal › Article
Mark Metabolic profiles in children during fasting
Van Veen, Merel R. ; Van Hasselt, Peter M. ; De Sain-van Der Velden, Monique G.M. ; Verhoeven, Nanda ; Hofstede, Floris C. ; De Koning, Tom J. ^LU and Visser, Gepke (2011) In Pediatrics 127(4).
- Contribution to journal › Article
2010
Mark Whole body composition analysis by the BodPod air-displacement plethysmography method in children with Phenylketonuria shows a higher body fat percentage
Albersen, Monique ; Bonthuis, Marjolein ; De Roos, Nicole M. ; Van Den Hurk, Dorine A.M. ; Carbasius Weber, Ems ; Hendriks, Margriet M.W.B. ; De Sain-Van Der Velden, Monique G.M. ; De Koning, Tom J. ^LU and Visser, Gepke (2010) In Journal of Inherited Metabolic Disease 33(SUPPL. 3).
- Contribution to journal › Article
Mark Fatal cerebral edema associated with serine deficiency in CSF
Keularts, Irene M.L.W. ; Leroy, Piet L.J.M. ; Rubio-Gozalbo, Estela M. ; Spaapen, Leo J.M. ; Weber, Biene ; Dorland, Bert ; De Koning, Tom J. ^LU and Verhoeven-Duif, Nanda M. (2010) In Journal of Inherited Metabolic Disease 33(SUPPL. 3). p.181-185
- Contribution to journal › Article
Mark Hydrolysed formula is a risk factor for vitamin K deficiency in infants with unrecognised cholestasis
Van Hasselt, P. M. ; De Vries, W. ; De Vries, E. ; Kok, K. ; Cranenburg, E. C.M. ; De Koning, T. J. ^LU ; Schurgers, L. J. ; Verkade, H. J. and Houwen, R. H.J. (2010) In Journal of Pediatric Gastroenterology and Nutrition 51(6). p.773-776
- Contribution to journal › Article
Mark Fatal cerebral edema associated with serine deficiency in CSF
Keularts, I. M.L.W. ; Rubio-Gozalbo, E. M. ; Spaapen, L. J.M. ; Dorland, L. ; De Koning, T. J. ^LU and Verhoeven-Duif, N. M. (2010) In Nederlands Tijdschrift voor Klinische Chemie en Laboratoriumgeneeskunde 35(3). p.189-191
- Contribution to journal › Article
Mark Magnetic resonance imaging pattern recognition in hypomyelinating disorders
Steenweg, Marjan E. ; Vanderver, Adeline ; Blaser, Susan ; Bizzi, Alberto ; De Koning, Tom J. ^LU ; Mancini, Grazia M.S. ; Van Wieringen, Wessel N. ; Barkhof, Frederik ; Wolf, Nicole I. and Van Der Knaap, Marjo S. (2010) In Brain 133(10). p.2971-2982
- Contribution to journal › Article
Mark Multicentre age-related reference intervals for cerebrospinal fluid serine concentrations : Implications for the diagnosis and follow-up of serine biosynthesis disorders
Moat, Stuart ; Carling, Rachel ; Nix, Authur ; Henderson, Michael ; Briddon, Anthony ; Prunty, Helen ; Talbot, Roy ; Powell, Annette ; Wright, Katherine and Fuchs, Sabine , et al. (2010) In Molecular Genetics and Metabolism 101(2-3). p.149-152
- Contribution to journal › Article
Mark Presenterende symptomen bij het syndroom van Hurler : Handvatten voor een eerdere diagnose?
Touw, C. M.L. ; Aldenhoven, M. ; Van Hasselt, P. M. ; Wijburg, F. A. ; Teunissen, Q. ; Van Der Ploeg, A. T. ; Mulder, M. F. ; Boelens, J. J. and De Koning, T. J. ^LU (2010) In Tijdschrift voor Kindergeneeskunde 78(4). p.149-154
- Contribution to journal › Article
Mark Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation
Lübbehusen, Jürgen ; Thiel, Christian ; Rind, Nina ; Ungar, Daniel ; Prinsen, Berthil H.C.M.T. ; de Koning, Tom J. ^LU ; van Hasselt, Peter M. and Körner, Christian (2010) In Human Molecular Genetics 19(18). p.3623-3633
- Contribution to journal › Article

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