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Tom de Koning

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Katja M J Heitink-Pollé; Berthil H C M T Prinsen; Peter M van Hasselt; Tom J de Koning; Marc B Bierings
High incidence of symptomatic hyperammonemia in children with acute lymphoblastic leukemia receiving pegylated asparaginase.
Eugène F Diekman; Marinus Duran; Lodewijk IJlst; Berthil H C M T Prinsen; Carolien C A Boelen; Tom J de Koning; Ronald J A Wanders; Hans R Waterham; Frits A Wijburg; Gepke Visser
Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency.
Monique Albersen; Marjolein Bosma; Tom J de Koning; Jessica de Ruijter; Berna H B de Ruiter; Eugène F Diekman; Nine V V A M Knoers; Wouter F Visser; Nanda M Verhoeven-Duif
The intestine plays a substantial role in human vitamin B6 metabolism: a Caco-2 cell model.

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2013: Katja M J Heitink-Pollé; Berthil H C M T Prinsen; Peter M van Hasselt; Tom J de Koning; Marc B Bierings
High incidence of symptomatic hyperammonemia in children with acute lymphoblastic leukemia receiving pegylated asparaginase.
JIMD reports 2013;7():103-8.
2013: Eugène F Diekman; Marinus Duran; Lodewijk IJlst; Berthil H C M T Prinsen; Carolien C A Boelen; Tom J de Koning; Ronald J A Wanders; Hans R Waterham; Frits A Wijburg; Gepke Visser
Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency.
JIMD reports 2013;7():1-6.
2013: Monique Albersen; Marjolein Bosma; Tom J de Koning; Jessica de Ruijter; Berna H B de Ruiter; Eugène F Diekman; Nine V V A M Knoers; Wouter F Visser; Nanda M Verhoeven-Duif
The intestine plays a substantial role in human vitamin B6 metabolism: a Caco-2 cell model.
PloS one 2013;8(1):e54113.
2012: Jurjen J Luykx; Eric Strengman; Loes van Boxmeer; Eric P A van Dongen; Kristel R van Eijk; Nanda M Verhoeven; Christiaan H Vinkers; Wouter F Visser; Steven C Bakker; Paul Borgdorff; Peter Bruins; Tom J de Koning; René S Kahn; Teus H Kappen; Peter Keijzers; Judith A Lens; Roel A Ophoff
A common variant in ERBB4 regulates GABA concentrations in human cerebrospinal fluid.
Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology 2012;37(9):2088-92.
2012: Monique Albersen; Marjolein Bosma; Tom J de Koning; Monique G M de Sain-Van Der Velden; Floris Groenendaal; Maria van der Ham; Gepke Visser; Wouter F Visser; Nanda M Verhoeven-Duif
Vitamin B6 vitamer concentrations in cerebrospinal fluid differ between preterm and term newborn infants.
Pediatrics 2012;130(1):e191-8.
2012: Sabine A Fuchs; Leo W J Klomp; Cacha M P C D Peeters-Scholte; Martin W Roeleveld; Ruud Berger; Martina M J de Barse; Tom J de Koning
Increased concentrations of both NMDA receptor co-agonists D-serine and glycine in global ischemia: a potential novel treatment target for perinatal asphyxia.
Amino acids 2012;43(1):355-63.
2012: Wouter F Visser; Nanda M Verhoeven-Duif; Tom J de Koning
Identification of a human trans-3-hydroxy-L-proline dehydratase, the first characterized member of a novel family of proline racemase-like enzymes.
The Journal of biological chemistry 2012;287(26):21654-62.
2012: Monique G M de Sain-Van Der Velden; Bert Elvers; Mick Henderson; Berthil H C M T Prinsen; Piero Rinaldo; Nanda M Verhoeven-Duif; John H Walter; Tom J de Koning; Peter van Hasselt
The Proline/Citrulline Ratio as a Biomarker for OAT Deficiency in Early Infancy.
JIMD reports 2012;6():95-9.
2012: Sabine A Fuchs; Leo W J Klomp; Martin W Roeleveld; Ruud Berger; Tom J de Koning
D-serine influences synaptogenesis in a p19 cell model.
JIMD reports 2012;6():47-53.
2011: Wouter F Visser; Steven Bakker; Ruud Berger; Leo W Klomp; Roel Ophoff; Nanda M Verhoeven-Duif; Tom J de Koning
A sensitive and simple ultra-high-performance-liquid chromatography-tandem mass spectrometry based method for the quantification of D-amino acids in body fluids.
Journal of chromatography. A 2011;1218(40):7130-6.
2011: Sabine A Fuchs; Ruud Berger; Tom J de Koning
D-serine: the right or wrong isoform?
Brain research 2011;1401():104-17.
2011: Marleen H van der Linden; Tom J de Koning; Moyo C Kruyt; F Cumhur Oner; Ralph J B Sakkers; René M Castelein
Orthopaedic management of Hurler's disease after hematopoietic stem cell transplantation: a systematic review.
Journal of inherited metabolic disease 2011;34(3):657-69.
2011: Désirée Y Visser; Nicolaas J Jansen; Marloes M Ijland; Tom J de Koning; Peter M van Hasselt
Intracranial bleeding due to vitamin K deficiency: advantages of using a pediatric intensive care registry.
Intensive care medicine 2011;37(6):1014-20.
2011: Merel van Veen; Peter M van Hasselt; Monique G M de Sain-Van Der Velden; Nanda Verhoeven; Floris C Hofstede; Tom J de Koning; Gepke Visser
Metabolic profiles in children during fasting.
Pediatrics 2011;127(4):e1021-7.
2011: L Tabatabaie; Leo W J Klomp; M E Rubio-Gozalbo; L J M Spaapen; A A M Haagen; Lambertus Dorland; Tom J de Koning
Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency.
Journal of inherited metabolic disease 2011;34(1):181-4.
2010: L Tabatabaie; Leo W J Klomp; Ruud Berger; Tom J de Koning
L-serine synthesis in the central nervous system: a review on serine deficiency disorders.
Molecular genetics and metabolism 2010;99(3):256-62.
2009: P M van Hasselt; K Kok; A D M Vorselaars; L van Vlerken; E Nieuwenhuys; Tom J de Koning; R A de Vries; Roderick H J Houwen
Vitamin K deficiency bleeding in cholestatic infants with alpha-1-antitrypsin deficiency.
Archives of disease in childhood. Fetal and neonatal edition 2009;94(6):F456-60.
2009: L Tabatabaie; Tom J de Koning; A J J M Geboers; Inge E T van den Berg; Ruud Berger; Leo W J Klomp
Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics.
Human mutation 2009;30(5):749-56.
2008: Sabine A Fuchs; Monique G M de Sain-Van Der Velden; Martina M J de Barse; Martin W Roeleveld; Margriet Hendriks; Lambertus Dorland; Leo W J Klomp; Ruud Berger; Tom J de Koning
Two mass-spectrometric techniques for quantifying serine enantiomers and glycine in cerebrospinal fluid: potential confounders and age-dependent ranges.
Clinical chemistry 2008;54(9):1443-50.
2008: M Aldenhoven; Tom J de Koning; Nico M Wulffraat; Jaap Jan Boelens
[Umbilical cord blood from an unrelated donor as source for stem cell transplantations in inborn errors of metabolism].
Nederlands tijdschrift voor geneeskunde 2008;152(31):1719-24.
2008: Hannelie M Engbers; Ruud Berger; Peter van Hasselt; Tom J de Koning; Monique G M de Sain-Van Der Velden; Hester Y Kroes; Gepke Visser
Yield of additional metabolic studies in neurodevelopmental disorders.
Annals of neurology 2008;64(2):212-7.
2008: Mieke Aldenhoven; Jaap Jan Boelens; Tom J de Koning
The clinical outcome of Hurler syndrome after stem cell transplantation.
Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2008;14(5):485-98.
2008: Sabine A Fuchs; Martina M J de Barse; Floor E Scheepers; Wiepke Cahn; Lambertus Dorland; Monique G M de Sain-Van Der Velden; Leo W J Klomp; Ruud Berger; René S Kahn; Tom J de Koning
Cerebrospinal fluid D-serine and glycine concentrations are unaltered and unaffected by olanzapine therapy in male schizophrenic patients.
European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology 2008;18(5):333-8.
2008: Peter M van Hasselt; Tom J de Koning; Nina Kvist; Elsemieke de Vries; Christina Rydahl Lundin; Ruud Berger; Jan L L Kimpen; Roderick H J Houwen; Marianne Horby Jorgensen; Henkjan J Verkade
Prevention of vitamin K deficiency bleeding in breastfed infants: lessons from the Dutch and Danish biliary atresia registries.
Pediatrics 2008;121(4):e857-63.
2007: M Aldenhoven; Leo W J Klomp; P M van Hasselt; Tom J de Koning; Gepke Visser
[From gene to disease; Menkes disease: copper deficiency due to an ATP7A-gene defect].
Nederlands tijdschrift voor geneeskunde 2007;151(41):2266-70.
2007: Marco P.M. Boks; T Rietkerk; M H van de Beek; I E C Sommer; Tom J de Koning; René S Kahn
Reviewing the role of the genes G72 and DAAO in glutamate neurotransmission in schizophrenia.
European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology 2007;17(9):567-72.
2007: Maria van der Ham; Berthil H C M T Prinsen; Jan G M Huijmans; N G G M Abeling; Bert Dorland; Ruud Berger; Tom J de Koning; Monique G M de Sain-Van Der Velden
Quantification of free and total sialic acid excretion by LC-MS/MS.
Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 2007;848(2):251-7.
2006: Sabine A Fuchs; Lambertus Dorland; Monique G M de Sain-Van Der Velden; Margriet Hendriks; Leo W J Klomp; Ruud Berger; Tom J de Koning
D-serine in the developing human central nervous system.
Annals of neurology 2006;60(4):476-80.
2006: H Vlaardingerbroek; Gerard Hornstra; Tom J de Koning; Jan A M Smeitink; H D Bakker; H B C de Klerk; M Estela Rubio-Gozalbo
Essential polyunsaturated fatty acids in plasma and erythrocytes of children with inborn errors of amino acid metabolism.
Molecular genetics and metabolism 2006;88(2):159-65.
2006: SB Wortmann; Richard J T Rodenburg; Marjan Huizing; Ference J Loupatty; Tom J de Koning; Leo A J Kluijtmans; Udo F H Engelke; Ron A Wevers; Jan A M Smeitink; Eva Morava
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.
Molecular genetics and metabolism 2006;88(1):47-52.
2006: Tom J de Koning
Treatment with amino acids in serine deficiency disorders.
Journal of inherited metabolic disease 2006;29(2-3):347-51.
2005: Sabine A Fuchs; Ruud Berger; Leo W J Klomp; Tom J de Koning
D-amino acids in the central nervous system in health and disease.
Molecular genetics and metabolism 2005;85(3):168-80.
2005: MA Cleary; Lambertus Dorland; Tom J de Koning; Bwee Tien Poll-The; M Duran; Roseann Mandell; Vivian E Shih; R Berger; Simon E Olpin; G T N Besley
Ornithine aminotransferase deficiency: diagnostic difficulties in neonatal presentation.
Journal of inherited metabolic disease 2005;28(5):673-9.
2004: Tom J de Koning; Leo W J Klomp; A C C van Oppen; Frits A Beemer; Lambertus Dorland; Inge E T van den Berg; Ruud Berger
Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency.
Lancet 2004;364(9452):2221-2.
2004: Tom J de Koning; Leo W J Klomp
Serine-deficiency syndromes.
Current opinion in neurology 2004;17(2):197-204.
2004: Markus Schwarz; Christian Thiel; Jürgen Lübbehusen; Bert Dorland; Tom J de Koning; Kurt von Figura; Ludwig Lehle; Christian Körner
Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik.
American journal of human genetics 2004;74(3):472-81.
2004: A B C Roeleveld-Versteegh; Kees P J Braun; Jan A M Smeitink; Lambertus Dorland; Tom J de Koning
Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhood.
Journal of inherited metabolic disease 2004;27(2):281-3.
2004: L W Brüggemann; F Groenendaal; E Ristoff; A Larsson; Marinus Duran; J A C van Lier; Lambertus Dorland; Ruud Berger; Tom J de Koning
Glutathione synthetase deficiency associated with antenatal cerebral bleeding.
Journal of inherited metabolic disease 2004;27(2):275-6.
2004: C C van Hagen; E Carbasius Weber; Th A M van den Hurk; J H Oudshoorn; Lambertus Dorland; Ruud Berger; Tom J de Koning
Energy expenditure in patients with propionic and methylmalonic acidaemias.
Journal of inherited metabolic disease 2004;27(1):111-2.
2003: Tom J de Koning; Keith Snell; Marinus Duran; Ruud Berger; Bwee Tien Poll-The; Robert Surtees
L-serine in disease and development.
The Biochemical journal 2003;371(Pt 3):653-61.
2003: P M van Hasselt; Roderick H J Houwen; A T H van Dijk; Tom J de Koning
[Vitamin K deficiency bleeding in an infant despite adequate prophylaxis].
Nederlands tijdschrift voor geneeskunde 2003;147(16):737-40.
2002: J C M Baas; R van de Laar; Lambertus Dorland; Marinus Duran; Ruud Berger; Bwee Tien Poll-The; Tom J de Koning
Plasma pipecolic acid is frequently elevated in non-peroxisomal disease.
Journal of inherited metabolic disease 2002;25(8):699-701.
2002: Ina Knerr; J Zschocke; Udo Trautmann; Lambertus Dorland; Tom J de Koning; P Müller; E Christensen; F K Trefz; G F Wündisch; Wolfgang Rascher; G F Hoffmann
Glutaric aciduria type III: a distinctive non-disease?
Journal of inherited metabolic disease 2002;25(6):483-90.
2002: Tom J de Koning; Marinus Duran; L Van Maldergem; M Pineda; Lambertus Dorland; R H J M Gooskens; J Jaeken; Bwee Tien Poll-The
Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: outcome of treatment with amino acids.
Journal of inherited metabolic disease 2002;25(2):119-25.
2001: L J M Spaapen; Jaap Bakker; C Velter; W Loots; M Estela Rubio-Gozalbo; P Ph Forget; Lambertus Dorland; Tom J de Koning; Bwee Tien Poll-The; H K Ploos van Amstel; J Bekhof; N Blau; M Duran; M E Rubio-Gonzalbo
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates.
Journal of inherited metabolic disease 2001;24(3):352-8.
2001: Damayanti R Sjarif; T Révész; Tom J de Koning; Marinus Duran; Frits A Beemer; Bwee Tien Poll-The
Isolated glycerol kinase deficiency and Fanconi anemia.
American journal of medical genetics 2001;99(2):159-60.
2000: Tom J de Koning; J Jaeken; M Pineda; L Van Maldergem; Bwee Tien Poll-The; M S van der Knaap
Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency.
Neuropediatrics 2000;31(6):287-92.
2000: Tom J de Koning; M Duran; Lambertus Dorland; C Jakobs; R A Wevers; R Berger; Bwee Tien Poll-The
Neurotransmitters in 3-phosphoglycerate dehydrogenase deficiency.
European journal of pediatrics 2000;159(12):939-40.
2000: Leo W J Klomp; Tom J de Koning; Helga E M Malingré; Ellen A C M van Beurden; M Brink; F L Opdam; Marinus Duran; J Jaeken; M Pineda; L Van Maldergem; Bwee Tien Poll-The; Inge E T van den Berg; Ruud Berger
Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis.
American journal of human genetics 2000;67(6):1389-99.
2000: Damayanti R Sjarif; Lambertus Dorland; Wolfgang Sperl; Tom J de Koning; Frits A Beemer; Bwee Tien Poll-The; Marinus Duran
Hyperketonaemia in glycerol kinase deficiency.
Journal of inherited metabolic disease 2000;23(7):760-4.
2000: Els Schollen; Lambertus Dorland; Tom J de Koning; Otto P van Diggelen; Jan G M Huijmans; T Marquardt; D Babovic-Vuksanovic; M Patterson; F Imtiaz; Bryan Winchester; Maciej Adamowicz; Ewa Pronicka; Hudson H Freeze; Gert Matthijs
Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).
Human mutation 2000;16(3):247-52.
2000: Tom J de Koning; Peter Nikkels; Lambertus Dorland; J Bekhof; J E De Schrijver; J van Hattum; Otto P van Diggelen; Marinus Duran; Ruud Berger; Bwee Tien Poll-The
Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency.
Virchows Archiv : an international journal of pathology 2000;437(1):101-5.
2000: Bwee Tien Poll-The; Joost Frenkel; Sander M Houten; Wietse Kuis; Marinus Duran; Tom J de Koning; Lambertus Dorland; Martina M J de Barse; Gerrit Jan Romeijn; Ronald J A Wanders; Hans R Waterham
Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome.
Journal of inherited metabolic disease 2000;23(4):363-6.
1999: Markus Aebi; ari Helenius; B Schenk; R Barone; A Fiumara; Eric G Berger; Thierry Hennet; T Imbach; A Stutz; Cecilia Bjursell; A Uller; Jan Wahlström; Paz Briones; E Cardo; Peter Clayton; Bryan Winchester; V Cormier-Dalre; Pascale de Lonlay; Maryvonne Cuer; Thierry Dupré; Nathalie Seta; Tom J de Koning; Lambertus Dorland; F de Loos; L Kupers
Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS.
Glycoconjugate journal 1999;16(11):669-71.
1999: Tom J de Koning; Lambertus Dorland; G P van Berge Henegouwen
Phosphomannose isomerase deficiency as a cause of congenital hepatic fibrosis and protein-losing enteropathy.
Journal of hepatology 1999;31(3):557-60.
1999: Sander M Houten; Wietse Kuis; Marinus Duran; Tom J de Koning; Annet van Royen-Kerkhof; Gerrit Jan Romeijn; Joost Frenkel; Lambertus Dorland; Martina M J de Barse; W A Huijbers; Ger T Rijkers; Hans R Waterham; Ronald J A Wanders; Bwee Tien Poll-The
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.
Nature genetics 1999;22(2):175-7.
1999: Tom J de Koning; L S de Vries; F Groenendaal; Wim Ruitenbeek; G H Jansen; Bwee Tien Poll-The; Peter G Barth
Pontocerebellar hypoplasia associated with respiratory-chain defects.
Neuropediatrics 1999;30(2):93-5.
1999: Tom J de Koning; Bwee Tien Poll-The; J Jaeken
Continuing education in neurometabolic disorders--serine deficiency disorders.
Neuropediatrics 1999;30(1):1-4.
1998: Tom J de Koning; Mona C Toet; Lambertus Dorland; L S de Vries; Inge E T van den Berg; Marinus Duran; Bwee Tien Poll-The
Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome.
Journal of inherited metabolic disease 1998;21(6):681-2.
1998: Tom J de Koning; Marinus Duran; Lambertus Dorland; R H J M Gooskens; E Van Schaftingen; J Jaeken; N Blau; R Berger; Bwee Tien Poll-The
Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency.
Annals of neurology 1998;44(2):261-5.
1998: Tom J de Koning; Lambertus Dorland; Otto P van Diggelen; A M Boonman; G J de Jong; W L van Noort; J De Schryver; Marinus Duran; Inge E T van den Berg; G J Gerwig; Ruud Berger; Bwee Tien Poll-The
A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency.
Biochemical and biophysical research communications 1998;245(1):38-42.
1997: Jaak Jaeken; J Artigas; R Barone; A Fiumara; Tom J de Koning; B T Poll-The; JF de Rijk-van Andel; Georg F Hoffmann; Birgit Assmann; Ertan Mayatepek; M Pineda; M A Vilaseca; J M Saudubray; B Schlüter; Ron A Wevers; Emile Van Schaftingen
Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins.
Journal of inherited metabolic disease 1997;20(3):447-9.
1997: Tom J de Koning; R H J M Gooskens; R Veenhoven; erik Meijboom; G H Jansen; P Lasjaunias; Linda S de Vries
Arteriovenous malformation of the vein of Galen in three neonates: emphasis on associated early ischaemic brain damage.
European journal of pediatrics 1997;156(3):228-9.
1996: Tom J de Koning; Marinus Duran; L Dorland; Ruud Berger; B T Poll-The
Maternal 3-methylglutaconic aciduria associated with abnormalities in offspring.
Lancet 1996;348(9031):887-8.