Serotonergic system in vivo with [ 11 C]DASB PET scans in GTP-cyclohydrolase deficient dopa-responsive dystonia patients
Timmers, Elze R, Peretti, Débora E, Smit, Marenka, de Jong, Bauke M, Dierckx, Rudi A J O, Kuiper, Anouk, de Koning, Tom J, Vállez García, David, Tijssen, Marina A J
Published in Scientific reports (15.04.2022)
Published in Scientific reports (15.04.2022)
Get full text
Journal Article
Prevention of vitamin K deficiency bleeding in breastfed infants: lessons from the Dutch and Danish biliary atresia registries
van Hasselt, Peter M, de Koning, Tom J, Kvist, Nina, de Vries, Elsemieke, Lundin, Christina Rydahl, Berger, Ruud, Kimpen, Jan L L, Houwen, Roderick H J, Jorgensen, Marianne Horby, Verkade, Henkjan J
Published in Pediatrics (Evanston) (01.04.2008)
Published in Pediatrics (Evanston) (01.04.2008)
Get more information
Journal Article
Polyhydramnios, Transient Antenatal Bartter’s Syndrome, and MAGED2 Mutations
Laghmani, Kamel, Beck, Bodo B, Yang, Sung-Sen, Seaayfan, Elie, Wenzel, Andrea, Reusch, Björn, Vitzthum, Helga, Priem, Dario, Demaretz, Sylvie, Bergmann, Klasien, Duin, Leonie K, Göbel, Heike, Mache, Christoph, Thiele, Holger, Bartram, Malte P, Dombret, Carlos, Altmüller, Janine, Nürnberg, Peter, Benzing, Thomas, Levtchenko, Elena, Seyberth, Hannsjörg W, Klaus, Günter, Yigit, Gökhan, Lin, Shih-Hua, Timmer, Albert, de Koning, Tom J, Scherjon, Sicco A, Schlingmann, Karl P, Bertrand, Mathieu J.M, Rinschen, Markus M, de Backer, Olivier, Konrad, Martin, Kömhoff, Martin
Published in The New England journal of medicine (12.05.2016)
Published in The New England journal of medicine (12.05.2016)
Get full text
Journal Article
Rapid Targeted Genomics in Critically Ill Newborns
van Diemen, Cleo C, Kerstjens-Frederikse, Wilhelmina S, Bergman, Klasien A, de Koning, Tom J, Sikkema-Raddatz, Birgit, van der Velde, Joeri K, Abbott, Kristin M, Herkert, Johanna C, Löhner, Katharina, Rump, Patrick, Meems-Veldhuis, Martine T, Neerincx, Pieter B T, Jongbloed, Jan D H, van Ravenswaaij-Arts, Conny M, Swertz, Morris A, Sinke, Richard J, van Langen, Irene M, Wijmenga, Cisca
Published in Pediatrics (Evanston) (01.10.2017)
Published in Pediatrics (Evanston) (01.10.2017)
Get more information
Journal Article
A sensitive and simple ultra-high-performance-liquid chromatography–tandem mass spectrometry based method for the quantification of d-amino acids in body fluids
Visser, Wouter F., Verhoeven-Duif, Nanda M., Ophoff, Roel, Bakker, Steven, Klomp, Leo W., Berger, Ruud, de Koning, Tom J.
Published in Journal of Chromatography A (07.10.2011)
Published in Journal of Chromatography A (07.10.2011)
Get full text
Journal Article
GAVIN: Gene-Aware Variant INterpretation for medical sequencing
van der Velde, K Joeri, de Boer, Eddy N, van Diemen, Cleo C, Sikkema-Raddatz, Birgit, Abbott, Kristin M, Knopperts, Alain, Franke, Lude, Sijmons, Rolf H, de Koning, Tom J, Wijmenga, Cisca, Sinke, Richard J, Swertz, Morris A
Published in Genome Biology (16.01.2017)
Published in Genome Biology (16.01.2017)
Get full text
Journal Article
Treatment of ARS deficiencies with specific amino acids
Kok, Gautam, Tseng, Laura, Schene, Imre F, Dijsselhof, Monique E, Salomons, Gajja, Mendes, Marisa I, Smith, Desiree E C, Wiedemann, Arnaud, Canton, Marie, Feillet, François, de Koning, Tom J, Boothe, Megan, Dean, Joy, Kassel, Rachel, Ferreira, Elise A, van den Born, Margreet, Nieuwenhuis, Edward E S, Rehmann, Holger, Terheggen-Lagro, Suzanne W J, van Karnebeek, Clara D M, Fuchs, Sabine A
Published in Genetics in medicine (01.11.2021)
Published in Genetics in medicine (01.11.2021)
Get full text
Journal Article
Physician's conceptions of the decision-making process when managing febrile infants ≤ 60 days old: a phenomenographic qualitative study
Orfanos, Ioannis, Lindkvist, Rose-Marie, Eklund, Erik G A, Elfving, Kristina, Alfvén, Tobias, de Koning, Tom J, Castor, Charlotte
Published in BMC pediatrics (26.01.2024)
Published in BMC pediatrics (26.01.2024)
Get full text
Journal Article
The Mitochondrial Epigenome: An Unexplored Avenue to Explain Unexplained Myopathies?
Mposhi, Archibold, Liang, Lin, Mennega, Kevin P, Yildiz, Dilemin, Kampert, Crista, Hof, Ingrid H, Jellema, Pytrick G, de Koning, Tom J, Faber, Klaas Nico, Ruiters, Marcel H J, Niezen-Koning, Klary E, Rots, Marianne G
Published in International journal of molecular sciences (16.02.2022)
Published in International journal of molecular sciences (16.02.2022)
Get full text
Journal Article
Gut Microbiome Composition in Dystonia Patients
Timmers, Elze R, Swarte, J Casper, Gacesa, Ranko, Björk, Johannes R, Weersma, Rinse K, Tijssen, Marina A J, de Koning, Tom J, Harmsen, Hermie J M, Niezen-Koning, Klary E
Published in International journal of molecular sciences (25.01.2023)
Published in International journal of molecular sciences (25.01.2023)
Get full text
Journal Article
Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy
Hentrich, Lea, Parnes, Mered, Lotze, Timothy Edward, Coorg, Rohini, de Koning, Tom J., Nguyen, Kha M., Yip, Calvin K., Jungbluth, Heinz, Koy, Anne, Dafsari, Hormos Salimi
Published in Genes (25.09.2023)
Published in Genes (25.09.2023)
Get full text
Journal Article
Identification of a Human trans-3-Hydroxy-l-proline Dehydratase, the First Characterized Member of a Novel Family of Proline Racemase-like Enzymes
Visser, Wouter F., Verhoeven-Duif, Nanda M., de Koning, Tom J.
Published in The Journal of biological chemistry (22.06.2012)
Published in The Journal of biological chemistry (22.06.2012)
Get full text
Journal Article
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, Visser, Gepke
Published in Pediatrics (Evanston) (01.04.2011)
Published in Pediatrics (Evanston) (01.04.2011)
Get more information
Journal Article
L-serine in disease and development
de Koning, Tom J, Snell, Keith, Duran, Marinus, Berger, Ruud, Poll-The, Bwee-Tien, Surtees, Robert
Published in Biochemical journal (01.05.2003)
Published in Biochemical journal (01.05.2003)
Get full text
Journal Article
d-Amino acids in the central nervous system in health and disease
Fuchs, Sabine A., Berger, Ruud, Klomp, Leo W.J., de Koning, Tom J.
Published in Molecular genetics and metabolism (01.07.2005)
Published in Molecular genetics and metabolism (01.07.2005)
Get full text
Journal Article
Development and Validation of Decision Rules Models to Stratify Coronary Artery Disease, Diabetes, and Hypertension Risk in Preventive Care: Cohort Study of Returning UK Biobank Participants
Castela Forte, José, Folkertsma, Pytrik, Gannamani, Rahul, Kumaraswamy, Sridhar, Mount, Sarah, de Koning, Tom J, van Dam, Sipko, Wolffenbuttel, Bruce H R
Published in Journal of personalized medicine (07.12.2021)
Published in Journal of personalized medicine (07.12.2021)
Get full text
Journal Article
Periodic fever in MVK deficiency: a patient initially diagnosed with incomplete Kawasaki disease
Thors, Valtyr S, Vastert, Sebastiaan J, Wulffraat, Nico, van Royen, Annet, Frenkel, Joost, de Sain-van der Velden, Monique, de Koning, Tom J
Published in Pediatrics (Evanston) (01.02.2014)
Published in Pediatrics (Evanston) (01.02.2014)
Get more information
Journal Article
The intestine plays a substantial role in human vitamin B6 metabolism: a Caco-2 cell model
Albersen, Monique, Bosma, Marjolein, Knoers, Nine V V A M, de Ruiter, Berna H B, Diekman, Eugène F, de Ruijter, Jessica, Visser, Wouter F, de Koning, Tom J, Verhoeven-Duif, Nanda M
Published in PloS one (14.01.2013)
Published in PloS one (14.01.2013)
Get full text
Journal Article