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Klaas Koop

university medical center utrecht

12H-index
45Paper Count
1.4KCitation Count
Published Papers 19
Publication Date
Too Early to Tell? Balancing Diagnostic Accuracy of Newborn Screening for Propionic Acidemia Versus a Timely Referral
err2025-12-25
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errOAAI
errNils W. F. Meijer; Hidde H. Huidekoper; Klaas Koop; Sabine A. Fuchs; M. Rebecca Heiner Fokkema; Charlotte M. A. Lubout; Andrea B. Haijer-Schreuder; Wouter F. Visser; Rendelien K. Verschoof-Puite; Eugènie Dekkers; Annet M. Bosch; Rose E. Maase; Monique G. M. de Sain-van der Velden
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NMNAT3 deficiency: a novel red blood cell enzymopathy causing hemolysis by altering NAD levels and glycolysis
errBlood
IF23.1
err2025-10-21
err0
PREAI
errTitine J.J. Ruiter; Brigitte A. van Oirschot; Esmé Waanders; Klaas Koop; Wouter W. van Solinge; Richard van Wijk; Judith J.M. Jans; Marije Bartels
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Rethinking Newborn Screening: A Case of GALM Deficiency
err2025-09-29
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errOAAI
errEva M. M. Hoytema van Konijnenburg; Silvia Radenkovic; Klaas Koop; Hubertus C. M. T. Prinsen; Monique de Sain-van der Velden
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Reducing False Positives in Newborn Screening: The Role of Perinatal Factors in the Dutch NBS Program
err2025-09-27
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errOAAI
errNils W. F. Meijer; Rose E. Maase; Patricia L. Hall; Wouter F. Visser; Klaas Koop; Annet M. Bosch; M. Rebecca Heiner-Fokkema; Monique G. M. de Sain‐van der Velden; the CLIR-NBS Group
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Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder
err2025-08-13
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errOAAI
errAmber S.E. van Oirsouw; Pavla Nedbalova; Miroslava Hancarova; Jan Prchal; Darina Prchalova; Marketa Vlckova; Sarka Bendova; Kristin G. Monaghan; Lisa M. Dyer; Yanmin Chen; Deanna Alexis Carere; Emma A.M. te Bogt; Heather Fisher; Angela E. Scheuerle; Stephanie Riley; Mahim Jain; Weiyi Mu; Joann N. Bodurtha; Albertien M. van Eerde; Marijn F. Stokman; Nicola Longo; Meena Balasubramanian; Michael Spiller; Gregory Costain; Charlotte von der Lippe; Kristian Tveten; Marianne Jortveit; Øystein L. Holla; Bertrand Isidor; Benjamin Cogné; Kevin E. Glinton; Blake Vuocolo; Roberta Ann Sierra; Brad Angle; Kelly Bontempo; Klaas Koop; Rachel Rabin; John Pappas; David A. Staffenberg; Pascal Joset; Peter Miny; Isabel Filges; Abdulrazak Alali; Kara Vitalone; Jill A. Rosenfeld; Weimin Bi; Samuel Bradbrook; Renee Perrier; Subhadra Ramanathan; June-Anne Gold; María Palomares Bralo; María Ángeles Gómez-Cano; Ann Haskins Olney; Shelly Nielsen; Alban Ziegler; Dominique Bonneau; Clément Prouteau; Ange-Line Bruel; Charlotte Caille-Benigni; Laëtitia Lambert; Andrea C. Yu; Nathaniel H. Robin; Dana Goodloe; Jan Fischer; Joseph Porrmann; Yvonne D. Hennig; Rami Abou Jamra; Isabella Herman; Ivy R. Johnson; Lucas Hérissant; Guillaume Jouret; Koen L.I. van Gassen; Ellen van Binsbergen; Bert van der Zwaag; Alwin Kamermans; Renske Oegema; Zdenek Sedlacek; Michaela Fenckova; Richard H. van Jaarsveld
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LIMK1 variants are associated with divergent endocrinological phenotypes and altered exocytosis dynamics
err2025-06-01
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errOAAI
errMuffels, Irena J. J.; Carter, Theodore; Rehmann, Holger; Vastert, Sebastiaan J.; Stuart, Annemarie A. Verrijn; Blank, Andreas C.; Garde, Aurore; van der Zwaag, Bert; De Lange, Iris M.; Giltay, Jacques C.; van Gassen, Koen L. I.; Koop, Klaas; Asensio, Cedric S.; van Hasselt, Peter M.
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Comment on Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone
err2024-09-24
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errOAAI
errDijkstra, Allysa M.; Evers-van Vliet, Kimber; Heiner-Fokkema, M. Rebecca; Bodewes, Frank A. J. A.; Bos, Dennis K.; Zsiros, Jozsef; van Aerde, Koen J.; Koop, Klaas; van Spronsen, Francjan J.; Lubout, Charlotte M. A.
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Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation
err2024-04-01
err2
errOAAI
errBhat, Shreyas; Rousseau, Justine; Michaud, Coralie; Lourenco, Charles Marques; Stoler, Joan M.; Louie, Raymond J.; Clarkson, Lola K.; Lichty, Angie; Koboldt, Daniel C.; Reshmi, Shalini C.; Sisodiya, Sanjay M.; van Konijnenburg, Eva M. M. Hoytema; Koop, Klaas; Hasselt, Peter M. van; Demurger, Florence; Dubourg, Christele; Sullivan, Bonnie R.; Hughes, Susan S.; Thiffault, Isabelle; Tremblay, Elisabeth Simard; Accogli, Andrea; Srour, Myriam; Blunck, Rikard; Campeau, Philippe M.
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Molecular and Phenotypic Characterization of the RORB-Related Disorder
err2024-01-23
err1
PREAI
errGokce-Samar, Zeynep; Vetro, Annalisa; De Bellescize, Julitta; Pisano, Tiziana; Monteiro, Laloe; Penaud, Noemie; Korff, Christian M.; Fluss, Joel; Marini, Carla; Cesaroni, Elisabetta; Alvarez, Blanca Mercedes; Sanlaville, Damien; Chatron, Nicolas; Arzimanoglou, Alexis A.; Labalme, Audrey; Cuddapah, Vishnu A.; Ruggiero, Sarah M.; Lecoquierre, Francois; Nicolas, Gael; Marie, Guerrot Anne; Lebas, Axel; Testard, Herve O.; Helbig, Katherine L.; Ruiz, Anna; Ngoh, Adeline; Kurian, Manju A.; Reid, Kimberley; Spaull, Robert; Joset, Pascal; Ramantani, Georgia; Steindl, Katharina; Krenn, Martin; Gerstl, Lucia; Vieker, Silvia; Craiu, Dana; Pendziwiat, Manuela; Haldeman-Englert, Chad; Kanivets, Ilya; Romanova, Irina; Rajan, Deepa S.; Rosenfeld, Jill A.; Au, Margaret; Grand, Katheryn; Graham Jr, John M.; Isapof, Arnaud; Villeneuve, Nathalie; Smol, Thomas; Caumes, Roseline; Zacher, Pia; Neuser, Sonja; Tinschert, Sigrid; Platzer, Konrad; Bartolomaeus, Tobias; Mohnke, Ines; Radtke, Maximilian; Jamra, Rami Abou; Helbig, Ingo; Jansen, Floortje E.; Koop, Klaas; Rudolf, Gabrielle; Kury, Sebastien; Courchet, Julien; Guerrini, Renzo; Lesca, Gaetan
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A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone
err2023-12-04
err7
errOAAI
errDijkstra, Allysa M.; Evers-van Vliet, Kimber; Heiner-Fokkema, M. Rebecca; Bodewes, Frank A. J. A.; Bos, Dennis K.; Zsiros, Jozsef; van Aerde, Koen J.; Koop, Klaas; van Spronsen, Francjan J.; Lubout, Charlotte M. A.
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A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening
err2023-10-11
err4
errOAAI
errVeldman, Abigail; Kiewiet, M. B. Gea; Westra, Dineke; Bosch, Annet M.; Brands, Marion M. G.; de Coo, Rene I. F. M.; Derks, Terry G. J.; Fuchs, Sabine A.; van den Hout, Johanna. M. P.; Huidekoper, Hidde H.; Kluijtmans, Leo A. J.; Koop, Klaas; Lubout, Charlotte M. A.; Mulder, Margaretha F.; Panis, Bianca; Rubio-Gozalbo, M. Estela; de van der Velden, Monique G.; Schaefers, Jaqueline; Schreuder, Andrea B.; Visser, Gepke; Wevers, Ron A.; Wijburg, Frits A.; Heiner-Fokkema, M. Rebecca; van Spronsen, Francjan J.
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Macrocephaly and developmental delay caused by missense variants in RAB5C
err2023-08-08
err3
errOAAI
errKoop, Klaas; Yuan, Weimin; Tessadori, Federico; Rodriguez-Polanco, Wilmer R.; Grubbs, Jeremy; Zhang, Bo; Osmond, Matt; Graham, Gail; Sawyer, Sarah; Conboy, Erin; Vetrini, Francesco; Treat, Kayla; Ploski, Rafal; Pienkowski, Victor Murcia; Klosowska, Anna; Fieg, Elizabeth; Krier, Joel; Mallebranche, Coralie; Alban, Ziegler; Aldinger, Kimberly A.; Ritter, Deborah; Macnamara, Ellen; Sullivan, Bonnie; Herriges, John; Alaimo, Joseph T.; Helbig, Catherine; Ellis, Colin A.; van Eyk, Clare; Gecz, Jozef; Farrugia, Daniel; Osei-Owusu, Ikeoluwa; Ades, Lesley; van den Boogaard, Marie-Jose; Fuchs, Sabine; Bakker, Jeroen; Duran, Karen; Dawson, Zachary D.; Lindsey, Anika; Huang, Huiyan; Baldridge, Dustin; Silverman, Gary A.; Grant, Barth D.; Raizen, David; van Haaften, Gijs; Pak, Stephen C.; Rehmann, Holger; Schedl, Tim; van Hasselt, Peter
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Increased dynamin expression precedes proteinuria in glomerular disease
err2018-11-27
err12
errOAAI
errKhalil, Ramzi; Koop, Klaas; Kreutz, Reinhold; Spaink, Herman P.; Hogendoorn, Pancras C. W.; Bruijn, Jan A.; Baelde, Hans J.
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Cat Scratches or Flea Feces?
err2014-01-01
err0
PREAI
errKoop, Klaas; Kruis, Sjoerd; Poelman, Esther; Eskes, Frank
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C4d Staining In Renal Allograft Biopsies with Early Acute Rejection and Subsequent Clinical Outcome
err2011-05-01
err12
errOAAI
errBotermans, Johanna M.; de Kort, Hanneke; Eikmans, Michael; Koop, Klaas; Baelde, Hans J.; Mallat, Marko J. K.; Zuidwijk, Kim; van Kooten, Cees; de Heer, Emile; Goemaere, Natascha N. T.; Claas, Frans H. J.; Bruijn, Jan A.; de Fijter, Johan W.; Bajema, Ingeborg M.; van Groningen, Marian C.
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Glomerular hypertrophy precedes albuminuria and segmental loss of podoplanin in podocytes in Munich-Wistar-Fromter rats
err2008-04-01
err48
PREAI
errIJpelaar, D. H. T.; Schulz, A.; Koop, K.; Schlesener, M.; Bruijn, J. A.; Kerjaschki, D.; Kreutz, R.; de Heer, E.
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Local dystrophin restoration with antisense oligonucleotide PRO051
err2007-12-27
err746
errOAAI
errvan Deutekom, Judith C.; Janson, Anneke A.; Ginjaar, Ieke B.; Frankhuizen, Wendy S.; Aartsma-Rus, Annemieke; Bremmer-Bout, Mattie; den Dunnen, Johan T.; Koop, Klaas; van der Kooi, Anneke J.; Goemans, Nathalie M.; de Kimpe, Sjef J.; Ekhart, Peter F.; Venneker, Edna H.; Platenburg, Gerard J.; Verschuuren, Jan J.; van Ommen, Gert-Jan B.
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Differentiation between chronic rejection and chronic cyclosporine toxicity by analysis of renal cortical mRNA
err2004-11-01
err22
errOAAI
errKoop, K; Bakker, RC; Eikmans, M; Baelde, HJ; de Heer, E; Paul, LC; Bruijn, JA
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