Tom J de Koning

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  1. Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: An updated nomenclature for CDG

    M. Aebi, A. Helenius, B. Schenk, R. Barone, A. Fiumara, E. G. Berger, T. Hennet, T. Imbach, A. Stutz, C. Bjursell, A. Uller, J. G. Wahlstrom, P. Briones, E. Cardo, P. Clayton, B. Winchester, V. Cormier-Dalre, P. De Lonlay, M. Cuer, T. Dupre & 30 others, N. Seta, T. De Koning, L. Dorland, F. De Loos, L. Kupers, L. Fabritz, M. Hasilik, T. Marquardt, R. Niehues, H. Freeze, S. Grunewald, L. Heykants, J. Jaeken, G. Matthijs, E. Schollen, G. Keir, S. Kjaergaard, M. Schwartz, F. Skovby, A. Klein, P. Roussel, C. Korner, T. Lubke, C. Thiel, K. Von Figura, J. Koscielak, D. Krasnewich, L. Lehle, V. Peters & M. Raab, 1999 Nov, In: Glycoconjugate Journal. 16, 11, p. 669-671

    Research output: Contribution to journalLetter

  2. The Intestine Plays a Substantial Role in Human Vitamin B6 Metabolism: A Caco-2 Cell Model

    Monique Albersen, Marjolein Bosma, Nine V.V.A.M. Knoers, Berna H.B. de Ruiter, Eugène F. Diekman, Jessica de Ruijter, Wouter F. Visser, Tom J. de Koning & Nanda M. Verhoeven-Duif, 2013 Jan 14, In: PLoS ONE. 8, 1, e54113.

    Research output: Contribution to journalArticle

  3. Vitamin B6 Vitamer concentrations in cerebrospinal fluid differ between preterm and termnewborn infants

    Monique Albersen, Floris Groenendaal, Maria Der Van Ham, Tom J. De Koning, Marjolein Bosma, Wouter F. Visser, Gepke Visser, Monique G.M. De Sain-van Der Velden & Nanda M. Verhoeven-Duif, 2012 Jul 1, In: Pediatrics. 130, 1

    Research output: Contribution to journalArticle

  4. Whole body composition analysis by the BodPod air-displacement plethysmography method in children with Phenylketonuria shows a higher body fat percentage

    Monique Albersen, Marjolein Bonthuis, Nicole M. De Roos, Dorine A.M. Van Den Hurk, Ems Carbasius Weber, Margriet M.W.B. Hendriks, Monique G.M. De Sain-Van Der Velden, Tom J. De Koning & Gepke Visser, 2010 Jan 1, In: Journal of Inherited Metabolic Disease. 33, SUPPL. 3

    Research output: Contribution to journalArticle

  5. Quality of life of Hurler syndrome patients after successful hematopoietic stem cell transplantation

    Mieke Aldenhoven, Brigitte T.A. Van Den Broek, Robert F. Wynn, Anne O'Meara, Paul Veys, Attilio Rovelli, Simon A. Jones, Rossella Parini, Peter M. Van Hasselt, Marleen Renard, Victoria Bordon, Tom J. De Koning & Jaap Jan Boelens, 2017 Nov 14, In: Blood Advances. 1, 24, p. 2236-2242 7 p.

    Research output: Contribution to journalArticle

  6. Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: An international multicenter study

    Mieke Aldenhoven, Robert F. Wynn, Paul J. Orchard, Anne O'Meara, Paul Veys, Alain Fischer, Vassili Valayannopoulos, Benedicte Neven, Attilio Rovelli, Vinod K. Prasad, Jakub Tolar, Heather Allewelt, Simon A. Jones, Rossella Parini, Marleen Renard, Victoria Bordon, Nico M. Wulffraat, Tom J. De Koning, Elsa G. Shapiro, Joanne Kurtzberg & 1 others, Jaap Jan Boelens, 2015 Mar 26, In: Blood. 125, 13, p. 2164-2172 9 p.

    Research output: Contribution to journalArticle

  7. Dried Blood Spot Analysis: An Easy and Reliable Tool to Monitor the Biochemical Effect of Hematopoietic Stem Cell Transplantation in Hurler Syndrome Patients

    Mieke Aldenhoven, Tom J. de Koning, Frans W. Verheijen, Berthil H. Prinsen, Frits A. Wijburg, Ans T. van der Ploeg, Monique G.M. de Sain-van der Velden & Jaap Jan Boelens, 2010 May 1, In: Biology of Blood and Marrow Transplantation. 16, 5, p. 701-704 4 p.

    Research output: Contribution to journalArticle

  8. Musculoskeletal manifestations of lysosomal storage disorders

    M. Aldenhoven, R. J.B. Sakkers, J. Boelens, T. J. De Koning & N. M. Wulffraat, 2009 Nov 1, In: Annals of the Rheumatic Diseases. 68, 11, p. 1659-1665

    Research output: Contribution to journalReview article

  9. Navelstrengbloed van een onverwante donor als bron voor stamceltransplantaties bij aangeboren stofwisselingsziekten

    M. Aldenhoven, T. J. De Koning, N. M. Wulffraat & J. J. Boelens, 2008 Aug 2, In: Nederlands Tijdschrift voor Geneeskunde. 152, 31, p. 1719-1724 6 p.

    Research output: Contribution to journalReview article

  10. The Clinical Outcome of Hurler Syndrome after Stem Cell Transplantation

    Mieke Aldenhoven, Jaap Jan Boelens & Tom J. de Koning, 2008 May 1, In: Biology of Blood and Marrow Transplantation. 14, 5, p. 485-498 14 p.

    Research output: Contribution to journalReview article

  11. Van gen naar ziekte; de ziekte van Menkes: Koperdeficiëntie door een ATP7A-gendefect

    M. Aldenhoven, L. W. Klomp, P. M. Van Hasselt, T. J. De Koning & G. Visser, 2007 Oct 13, In: Nederlands Tijdschrift voor Geneeskunde. 151, 41, p. 2266-2270 5 p.

    Research output: Contribution to journalReview article

  12. Plasma pipecolic acid is frequently elevated in non-peroxisomal disease

    J. C.M. Baas, R. van de Laar, L. Dorland, M. Duran, R. Berger, B. T. Poll-The & T. J. de Koning, 2002 Dec 1, In: Journal of Inherited Metabolic Disease. 25, 8, p. 699-701 3 p.

    Research output: Contribution to journalArticle

  13. Impaired cognitive functioning in patients with tyrosinemia type i receiving nitisinone

    Fatiha Bendadi, Tom J. De Koning, Gepke Visser, Hubertus C.M.T. Prinsen, Monique G.M. De Sain, Nanda Verhoeven-Duif, Gerben Sinnema, Francjan J. Van Spronsen & Peter M. Van Hasselt, 2014 Feb 1, In: Journal of Pediatrics. 164, 2, p. 398-401 4 p.

    Research output: Contribution to journalArticle

  14. Renal Fanconi syndrome with ultrastructural defects in lysinuric protein intolerance.

    M. A. Benninga, M. Lilien, T. J. de Koning, M. Duran, F. G. Versteegh, R. Goldschmeding & B. T. Poll-The, 2007 Jan 1, In: Journal of Inherited Metabolic Disease. 30, 3, p. 402-403 2 p.

    Research output: Contribution to journalArticle

  15. Reviewing the role of the genes G72 and DAAO in glutamate neurotransmission in schizophrenia

    M. P.M. Boks, T. Rietkerk, M. H. van de Beek, I. E. Sommer, T. J. de Koning & R. S. Kahn, 2007 Sep 1, In: European Neuropsychopharmacology. 17, 9, p. 567-572 6 p.

    Research output: Contribution to journalReview article

  16. A clinical diagnostic algorithm for early onset cerebellar ataxia

    R. Brandsma, C. C. Verschuuren-Bemelmans, D. Amrom, N. Barisic, P. Baxter, E. Bertini, L. Blumkin, V. Brankovic-Sreckovic, O. F. Brouwer, K. Bürk, C. E. Catsman-Berrevoets, D. Craiu, I. F.M. de Coo, J. Gburek, C. Kennedy, T. J. de Koning, H. P.H. Kremer, R. Kumar, A. Macaya, A. Micalizzi & 14 others, M. Mirabelli-Badenier, A. Nemeth, S. Nuovo, B. Poll-The, T. Lerman-Sagie, M. Steinlin, M. Synofzik, M. A.J. Tijssen, G. Vasco, M. A.A.P. Willemsen, G. Zanni, E. M. Valente, E. Boltshauser & D. A. Sival, 2019 Sep 1, In: European Journal of Paediatric Neurology. 23, 5, p. 692-706 15 p.

    Research output: Contribution to journalArticle

  17. Glutathione synthetase deficiency associated with antenatal cerebral bleeding

    L. W. Br̈ggemann, F. Groenendaal, E. Ristoff, A. Larsson, M. Duran, J. A.C. van Lier, L. Dorland, R. Berger & T. J. de Koning, 2004 Jun 23, In: Journal of Inherited Metabolic Disease. 27, 2, p. 275-276 2 p.

    Research output: Contribution to journalArticle

  18. Unexplained epileptic encephalopathy: Consider and reconsider pyridoxine dependent seizures

    Steven P. Claus, Kees P.J. Braun, Lambertus Dorland, Mireille Bourrez-Swart, Onno Van Nieuwenhuizen & Tom J. De Koning, 2003 Jan 1, In: Journal of Pediatric Neurology. 1, 1, p. 51-53 3 p.

    Research output: Contribution to journalLetter

  19. Ornithine aminotransferase deficiency: Diagnostic difficulties in neonatal presentation

    M. A. Cleary, L. Dorland, T. J. de Koning, B. T. Poll-The, M. Duran, R. Mandell, V. E. Shih, R. Berger, S. E. Olpin & Guy T.N. Besley, 2005 Jan 1, In: Journal of Inherited Metabolic Disease. 28, 5, p. 673-679 7 p.

    Research output: Contribution to journalArticle

  20. 3-phosphoglycerate dehydrogenase deficiency: A case report of a treatable cause of seizures

    Turgay Coşkun, Halil Ibrahim Aydin, Mustafa Kiliç, Ali Dursun, Göknur Haliloǧlu, Haluk Topaloǧlu, Kader Karli-Oǧuz & Tom J. De Koning, 2009 Nov 1, In: Turkish Journal of Pediatrics. 51, 6, p. 587-592 6 p.

    Research output: Contribution to journalArticle

  21. Amino acid synthesis deficiencies

    T. J. de Koning, 2017 Jul, In: Journal of Inherited Metabolic Disease. 40, 4, p. 609-620

    Research output: Contribution to journalReview article

  22. Treatment with amino acids in serine deficiency disorders

    T. J. de Koning, 2006 Apr 1, In: Journal of Inherited Metabolic Disease. 29, 2-3, p. 347-351 5 p.

    Research output: Contribution to journalArticle

  23. Movement disorders in 2014: Genetic advances spark a revolution in dystonia phenotyping

    Tom J. De Koning & Marina A.J. Tijssen, 2015 Feb, In: Nature Reviews Gastroenterology and Hepatology. 11, p. 78-79

    Research output: Contribution to journalReview article

  24. Movement disorders in 2014: Genetic advances spark a revolution in dystonia phenotyping

    Tom J. De Koning & Marina A.J. Tijssen, 2015 Feb, In: Nature Reviews Neurology. 11, p. 78-79

    Research output: Contribution to journalReview article

  25. Targeted next-generation sequencing panels for monogenetic disorders in clinical diagnostics: The opportunities and challenges

    Tom J. De Koning, Jan D.H. Jongbloed, Birgit Sikkema-Raddatz & Richard J. Sinke, 2015, In: Expert Review of Molecular Diagnostics. 15, 1, p. 61-70

    Research output: Contribution to journalReview article

  26. Amino acid synthesis deficiencies

    T. J. De Koning, 2013 Jan 1, Handbook of Clinical Neurology. The Association for the Study of Animal Behaviour / Elsevier B.V., p. 1775-1783 9 p. (Handbook of Clinical Neurology; vol. 113).

    Research output: Chapter in Book/Report/Conference proceedingBook chapter

  27. Serine, glycine, and threonine

    T. J. De Koning, S. A. Fuchs & L. W.J. Klomp, 2007 Dec 1, Handbook of Neurochemistry and Molecular Neurobiology: Amino Acids and Peptides in the Nervous System. Springer, p. 23-45 23 p.

    Research output: Chapter in Book/Report/Conference proceedingBook chapter

  28. Serine-deficiency syndromes

    Tom J. De Koning & Leo W.J. Klomp, 2004 Apr 1, In: Current Opinion in Neurology. 17, 2, p. 197-204 8 p.

    Research output: Contribution to journalReview article

  29. Serinedeficiëntie

    T. J. De Koning, L. W J Klomp, I. E T Van Den Berg, L. Dorland & R. Berger, 2003 Nov 1, In: Nederlands Tijdschrift voor Klinische Chemie en Laboratoriumgeneeskunde. 28, 6, p. 325-328 4 p.

    Research output: Contribution to journalArticle

  30. L-serine in disease and development

    Tom J. De Koning, Keith Snell, Marinus Duran, Ruud Berger, Bwee Tien Poll-The & Robert Surtees, 2003 May 1, In: Biochemical Journal. 371, 3, p. 653-661 9 p.

    Research output: Contribution to journalReview article

  31. 3-Phosphoglyceraat dehydrogenase in disease and development

    Tom J. De Koning, 2002 Jan 1, In: Tijdschrift voor Kindergeneeskunde. 70, 3, 1 p.

    Research output: Contribution to journalDebate/Note/Editorial

  32. Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: Outcome of treatment with amino acids

    T. J. De Koning, M. Duran, L. Van Maldergem, M. Pineda, L. Dorland, R. Gooskens, J. Jaeken & B. T. Poll-The, 2002 Jul 9, In: Journal of Inherited Metabolic Disease. 25, 2, p. 119-125 7 p.

    Research output: Contribution to journalArticle

  33. CDG type 1B: Kliniek, diagnostiek en behandeling

    T. J. De Koning, 2000 Dec 1, In: Tijdschrift voor Kindergeneeskunde. 68, SUPPL. 1, p. 51-51 1 p.

    Research output: Contribution to journalArticle

  34. Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency

    T. J. De Koning, J. Jaeken, M. Pineda, L. Van Maldergem, B. T. Poll-The & M. S. Van der Knaap, 2000 Dec 1, In: Neuropediatrics. 31, 6, p. 287-292 6 p.

    Research output: Contribution to journalArticle

  35. Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency

    T. J. De Koning, P. G.J. Nikkels, L. Dorland, J. Bekhof, J. E.A.R. De Schrijver, J. Van Hattum, O. P. Van Diggelen, M. Duran, R. Berger & B. T. Poll-The, 2000 Jan 1, In: Virchows Archiv. 437, 1, p. 101-105 5 p.

    Research output: Contribution to journalArticle

  36. Pontocerebellar hypoplasia associated with respiratory-chain defects

    T. J. De Koning, L. S. De Vries, F. Groenendaal, W. Ruitenbeek, G. H. Jansen, B. T. Poll-The & P. G. Barth, 1999 Jan 1, In: Neuropediatrics. 30, 2, p. 93-95 3 p.

    Research output: Contribution to journalArticle

  37. Continuing education in neurometabolic disorders - Serine deficiency disorders

    T. J. De Koning, B. T. Poll-The & J. Jaeken, 1999 Jan 1, In: Neuropediatrics. 30, 1, p. 1-4 4 p.

    Research output: Contribution to journalReview article

  38. A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency

    T. J. De Koning, L. Dorland, O. P. Van Diggelen, A. M.C. Boonman, G. J. De Jong, W. L. Van Noort, Jear De Schryver, M. Duran, I. E.T. Van Den Berg, G. J. Gerwig, R. Berger & B. T. Poll-The, 1998 Apr 7, In: Biochemical and Biophysical Research Communications. 245, 1, p. 38-42 5 p.

    Research output: Contribution to journalArticle

  39. Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency

    Tom J. De Koning, Marinus Duran, Lambertus Dorland, Rob Gooskens, Emile Van Schaftingen, Jaak Jacken, Nenad Blau, Ruud Berger & Bwee Tien Poll-The, 1998 Aug 1, In: Annals of Neurology. 44, 2, p. 261-265 5 p.

    Research output: Contribution to journalArticle

  40. Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome

    T. J. De Koning, M. Toet, L. Dorland, L. S. De Vries, I. E.T. Van Den Berg, M. Duran & B. T. Poll-The, 1998 Sep 28, In: Journal of Inherited Metabolic Disease. 21, 6, p. 681-682 2 p.

    Research output: Contribution to journalArticle

  41. Arteriovenous malformation of the vein of Galen in three neonates: Emphasis on associated early ischaemic brain damage

    T. J. De Koning, R. Goosketis, R. Veenhoven, E. J. Meijboom, G. H. Jansen, P. Lasjaunias & L. S. De Vries, 1997 Mar 11, In: European Journal of Pediatrics. 156, 3, p. 228-229 2 p.

    Research output: Contribution to journalArticle

  42. Congenitale microcefalie en milde maternale 3-methylglutaconacidurie

    T. J. De Koning, M. Duran, L. Dorland, R. Berger & B. T. Poll, 1996 Dec 1, In: Tijdschrift voor Kindergeneeskunde. 64, SUPPL. 1, p. 51-52 2 p.

    Research output: Contribution to journalArticle

  43. Maternal 3-methylglutaconic aciduria associated with abnormalities in offspring [2]

    T. J. De Koning, M. Duran, L. Dorland, R. Berger & B. T. Poll-The, 1996 Jan 1, In: The Lancet. 348, 9031, p. 887-888 2 p.

    Research output: Contribution to journalLetter

  44. Acute maagdilatatie en A. mesenterica superior-syndroom bij zwakzinnigen

    T. J. De Koning, C. Van Schie En & J. J.J. Waelkens, 1996 Sep 28, In: Nederlands Tijdschrift voor Geneeskunde. 140, 39, p. 1960-1963 4 p.

    Research output: Contribution to journalArticle

  45. Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis

    T. J. De Koning, L. A. Sandkuijl, J. E.A.R. De Schryver, E. A.M. Hennekam, F. A. Beemer & R. H.J. Houwen, 1995 Jul 3, In: American Journal of Medical Genetics. 57, 3, p. 479-482 4 p.

    Research output: Contribution to journalArticle

  46. Neurotransmitters in 3-phosphoglycerate dehydrogenase deficiency

    Tom J. De Koning, Marinus Duran, Lambertus Dorland, Cornelis Jakobs, Ron A. Wevers, Ruud Berger & Bwee Tien Poll-The, 2000 Jan 1, In: European Journal of Pediatrics. 159, 12, p. 939-940 2 p.

    Research output: Contribution to journalLetter

  47. Phosphomannose isomerase deficiency as a cause of congenital hepatic fibrosis and protein-losing enteropathy: Editorial

    T. J. De Koning, L. Dorland & G. P. Van Berge Henegouwen, 1999 Jan 1, In: Journal of Hepatology. 31, 3, p. 557-560 4 p.

    Research output: Contribution to journalDebate/Note/Editorial

  48. Fat as compared to glucose improves mitochondrial performance in a disorder of the respiratory chain (complex i deficiency)

    K. de Meer, J. A.L. Jeneson, T. J. de Koning, B. T. Poll & R. Berger, 1996 Jan 1, In: Journal of Pediatric Gastroenterology and Nutrition. 22, 4, 1 p.

    Research output: Contribution to journalArticle

  49. The proline/citrulline ratio as a biomarker for OAT deficiency in early infancy

    Monique G.M. de Sain-van der Velden, Piero Rinaldo, Bert Elvers, Mick Henderson, John H. Walter, Berthil H.C.M.T. Prinsen, Nanda M. Verhoeven-Duif, Tom J. de Koning & Peter van Hasselt, 2012 Jan 1, JIMD Reports. Springer Gabler, p. 95-99 5 p. (JIMD Reports; vol. 6).

    Research output: Chapter in Book/Report/Conference proceedingBook chapter

  50. Survival and psychomotor development with early betaine treatment in patients with severe methylenetetrahydrofolate reductase deficiency

    Eugene F. Diekman, Tom J. De Koning, Nanda M. Verhoeven-Duif, Maroeska M. Rovers & Peter M. Van Hasselt, 2014 Jan 1, In: JAMA Neurology. 71, 2, p. 188-194 7 p.

    Research output: Contribution to journalArticle

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