Tom J de Koning

121 – 130 of 204

show: 10
|
sort: year (new to old)

News feed Embed this list Save this search Mark all Export

Cancel

Embed this list

copy and paste the html snippet below into your own page:

<iframe src="https://lup.lub.lu.se/search/person/10a3052d-93e9-4c0f-898c-1adb825f56a4?embed=1&amp;hide_pagination=1&amp;hide_info=1&amp;hide_options=1"
  width="100%"
  height="400"
  allowtransparency="true"
  frameborder="0">
</iframe>

« previous
1
…
12
13
14
15
…
21
next »

2010
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
Mark Dried Blood Spot Analysis : An Easy and Reliable Tool to Monitor the Biochemical Effect of Hematopoietic Stem Cell Transplantation in Hurler Syndrome Patients
Aldenhoven, Mieke ; de Koning, Tom J. ^LU ; Verheijen, Frans W. ; Prinsen, Berthil H. ; Wijburg, Frits A. ; van der Ploeg, Ans T. ; de Sain-van der Velden, Monique G.M. and Boelens, Jaap Jan (2010) In Biology of Blood and Marrow Transplantation 16(5). p.701-704
- Contribution to journal › Article
Mark Liquid chromatography-tandem mass spectrometry assay for the quantification of free and total sialic acid in human cerebrospinal fluid
van der Ham, Maria ; de Koning, Tom J. ^LU ; Lefeber, Dirk ; Fleer, André ; Prinsen, Berthil H.C.M.T. and de Sain-van der Velden, Monique G.M. (2010) In Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences 878(15-16). p.1098-1102
- Contribution to journal › Article
Mark l-Serine synthesis in the central nervous system : A review on serine deficiency disorders
Tabatabaie, L. ; Klomp, L. W. ; Berger, R. and de Koning, T. J. ^LU (2010) In Molecular Genetics and Metabolism 99(3). p.256-262
- Contribution to journal › Scientific review
Mark Fasting and Fat-Loading Tests Provide Pathophysiological Insight into Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
van Maldegem, Bianca T. ; Duran, Marinus ; Wanders, Ronald J.A. ; Waterham, Hans R. ; de Koning, Tom J. ^LU ; Rubio, Estela and Wijburg, Frits A. (2010) In Journal of Pediatrics 156(1). p.121-127
- Contribution to journal › Article
2009
Mark 3-phosphoglycerate dehydrogenase deficiency : A case report of a treatable cause of seizures
Coşkun, Turgay ; Aydin, Halil Ibrahim ; Kiliç, Mustafa ; Dursun, Ali ; Haliloǧlu, Göknur ; Topaloǧlu, Haluk ; Karli-Oǧuz, Kader and De Koning, Tom J. ^LU (2009) In Turkish Journal of Pediatrics 51(6). p.587-592
- Contribution to journal › Article
Mark Musculoskeletal manifestations of lysosomal storage disorders
Aldenhoven, M. ; Sakkers, R. J.B. ; Boelens, J. ; De Koning, T. J. ^LU and Wulffraat, N. M. (2009) In Annals of the Rheumatic Diseases 68(11). p.1659-1665
- Contribution to journal › Scientific review

« previous
1
…
12
13
14
15
…
21
next »