Prof Tom J de Koning, MD PhD MBA
Prof Tom J de Koning, MD PhD MBA
Chair department of Pediatrics Lund University Sweden, PI department of Genetics and Neurology, UMCG
Verified email at med.lu.se - Homepage
Title
Cited by
Cited by
Year
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome
SM Houten, W Kuis, M Duran, TJ De Koning, A van Royen-Kerkhof, ...
Nature genetics 22 (2), 175-177, 1999
4921999
Magnetic resonance imaging pattern recognition in hypomyelinating disorders
ME Steenweg, A Vanderver, S Blaser, A Bizzi, TJ De Koning, ...
Brain 133 (10), 2971-2982, 2010
2362010
L-serine in disease and development
TJ De Koning, K Snell, M Duran, R Berger, R Surtees
Biochemical Journal 371 (3), 653-661, 2003
2322003
Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study
M Aldenhoven, RF Wynn, PJ Orchard, A O’Meara, P Veys, A Fischer, ...
Blood, The Journal of the American Society of Hematology 125 (13), 2164-2172, 2015
2292015
The clinical outcome of Hurler syndrome after stem cell transplantation
M Aldenhoven, JJ Boelens, TJ de Koning
Biology of Blood and Marrow Transplantation 14 (5), 485-498, 2008
2002008
D-amino acids in the central nervous system in health and disease
SA Fuchs, R Berger, LWJ Klomp, TJ De Koning
Molecular genetics and metabolism 85 (3), 168-180, 2005
1882005
L-serine synthesis in the central nervous system: a review on serine deficiency disorders
L Tabatabaie, LW Klomp, R Berger, TJ De Koning
Molecular genetics and metabolism 99 (3), 256-262, 2010
1572010
A sensitive and simple ultra-high-performance-liquid chromatography–tandem mass spectrometry based method for the quantification of d-amino acids in body fluids
WF Visser, NM Verhoeven-Duif, R Ophoff, S Bakker, LW Klomp, R Berger, ...
Journal of Chromatography A 1218 (40), 7130-7136, 2011
1222011
A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency
TJ De Koning, L Dorland, OP Van Diggelen, AMC Boonman, GJ De Jong, ...
Biochemical and biophysical research communications 245 (1), 38-42, 1998
1211998
Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency
TJ De Koning, LWJ Klomp, ACC Van Oppen, FA Beemer, L Dorland, ...
The Lancet 364 (9452), 2221-2222, 2004
1182004
Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG
M Aebi, A Helenius, B Schenk, R Barone, A Fiumara, EG Berger, ...
Glycoconjugate journal 16 (11), 669-671, 1999
1121999
Prevention of vitamin K deficiency bleeding in breastfed infants: lessons from the Dutch and Danish biliary atresia registries
PM Van Hasselt, TJ De Koning, N Kvist, E De Vries, CR Lundin, R Berger, ...
Pediatrics 121 (4), e857-e863, 2008
1042008
Musculoskeletal manifestations of lysosomal storage disorders
M Aldenhoven, RJB Sakkers, J Boelens, TJ De Koning, NM Wulffraat
Annals of the rheumatic diseases 68 (11), 1659-1665, 2009
1022009
Polyhydramnios, Transient Antenatal Bartter’s Syndrome, and MAGED2 Mutations
K Laghmani, BB Beck, SS Yang, E Seaayfan, A Wenzel, B Reusch, ...
New England Journal of Medicine 374 (19), 1853-1863, 2016
982016
Serine-deficiency syndromes
TJ De Koning, LWJ Klomp
Current opinion in neurology 17 (2), 197-204, 2004
982004
Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency—a neurometabolic disorder associated with reduced L-serine biosynthesis
LWJ Klomp, TJ De Koning, HEM Malingré, EACM Van Beurden, M Brink, ...
The American Journal of Human Genetics 67 (6), 1389-1399, 2000
962000
Beneficial effects of L‐serine and glycine in the management of seizures in 3‐phosphoglycerate dehydrogenase deficiency
TJ De Koning, M Duran, L Dorland, R Gooskens, E Van Schaftingen, ...
Annals of Neurology: Official Journal of the American Neurological …, 1998
951998
Reviewing the role of the genes G72 and DAAO in glutamate neurotransmission in schizophrenia
MPM Boks, T Rietkerk, MH Van De Beek, IE Sommer, TJ De Koning, ...
European Neuropsychopharmacology 17 (9), 567-572, 2007
932007
An update on serine deficiency disorders
SN Van der Crabben, NM Verhoeven-Duif, EH Brilstra, L Van Maldergem, ...
Journal of inherited metabolic disease 36 (4), 613-619, 2013
902013
Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation
J Lübbehusen, C Thiel, N Rind, D Ungar, BH Prinsen, TJ de Koning, ...
Human molecular genetics 19 (18), 3623-3633, 2010
882010
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