Publications by authors named "Klaas Koop"

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Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.
Amber S E van Oirsouw, Pavla Nedbalova, Miroslava Hancarova, Jan Prchal, Darina Prchalova, Klaas Koop

Genet Med· November 2025

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NMNAT3 deficiency: a novel red blood cell enzymopathy causing hemolysis by altering NAD levels and glycolysis.
Titine J J Ruiter, Brigitte A van Oirschot, Esme Waanders, Klaas Koop, Wouter W Van Solinge

Blood· October 2025

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Reducing False Positives in Newborn Screening: The Role of Perinatal Factors in the Dutch NBS Program.
Nils W F Meijer, Rose E Maase, Patricia L Hall, Wouter F Visser, Klaas Koop

Metabolites· September 2025

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A rare triplication of 16p11.2: Unravelling the genomic complexity and review of the literature.
Liselot van der Laan, Lotte Kleinendorst, Martin A Haagmans, Laura Roquas, Jasper J van der Smagt, Klaas Koop

Eur J Med Genet· June 2025

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LIMK1 variants are associated with divergent endocrinological phenotypes and altered exocytosis dynamics.
Irena J J Muffels, Theodore Carter, Holger Rehmann, Sebastiaan J Vastert, Annemarie A Verrijn Stuart, Klaas Koop

iScience· June 2025

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Lymphatic Obstruction and Edema in Neonate due to Left Subclavian Central Venous Catheter.
Klaas Koop, Dominique Valérie Clarence de Jel, Joppe Nijman, Barbara Peels, Ellis Peters

Case Rep Pediatr· June 2025

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Rethinking Newborn Screening: A Case of GALM Deficiency.
Eva M M Hoytema van Konijnenburg, Silvia Radenkovic, Klaas Koop, Hubertus C M T Prinsen, Monique de Sain-van der Velden

Int J Neonatal Screen· April 2025

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Reply to Bouva et al. Comment on "Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone. 2023, , 66".
Allysa M Dijkstra, Kimber Evers-van Vliet, M Rebecca Heiner-Fokkema, Frank A J A Bodewes, Dennis K Bos, Klaas Koop

Int J Neonatal Screen· September 2024

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Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.
Shreyas Bhat, Justine Rousseau, Coralie Michaud, Charles Marques Lourenço, Joan M Stoler, Klaas Koop

Am J Hum Genet· April 2024

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Molecular and Phenotypic Characterization of the -Related Disorder.
Zeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize, Tiziana Pisano, Laloe Monteiro, Klaas Koop

Neurology· January 2024

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A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone.
Allysa M Dijkstra, Kimber Evers-van Vliet, M Rebecca Heiner-Fokkema, Frank A J A Bodewes, Dennis K Bos, Klaas Koop

Int J Neonatal Screen· December 2023

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Macrocephaly and developmental delay caused by missense variants in RAB5C.
Klaas Koop, Weimin Yuan, Federico Tessadori, Wilmer R Rodriguez-Polanco, Jeremy Grubbs

Hum Mol Genet· October 2023

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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.
Abigail Veldman, M B Gea Kiewiet, Dineke Westra, Annet M Bosch, Marion M G Brands, Klaas Koop

Int J Neonatal Screen· October 2023

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Rhabdomyolysis, encephalopathy, epilepsy and cardiac arrhythmia.
Jonas Toeback, Mirjam de Pagter, Lieza Exalto, Klaas Koop, Joris Van der Heijden

Pract Neurol· August 2023

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Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the Gene.
Stephanie I W van de Stadt, Petra A W Mooyer, Inge M E Dijkstra, Conny J M Dekker, Divya Vats, Klaas Koop

Genes (Basel)· November 2021

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Genetic defect of the sodium-dependent multivitamin transporter: A treatable disease, mimicking biotinidase deficiency.
Marit Schwantje, Monique de Sain-van der Velden, Judith Jans, Koen van Gassen, Charlotte Dorrepaal, Klaas Koop

JIMD Rep· July 2019

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Increased dynamin expression precedes proteinuria in glomerular disease.
Ramzi Khalil, Klaas Koop, Reinhold Kreutz, Herman P Spaink, Pancras Cw Hogendoorn

J Pathol· February 2019

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[Fever with a rash caused by chronic meningococcemia].
Jeroen Christiaan de Jonge, Klaas Koop, Mente Bousema, Roos Nuboer

Ned Tijdschr Geneeskd· July 2015

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Cat scratches or flea feces?
Klaas Koop, Sjoerd Kruis, Esther Poelman, Frank Eskes

J Pediatr· January 2014

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A case of recurrent toxin-mediated perineal erythema.
Rachida El Bouch, Pauline Reubsaet, Klaas Koop, Jurgen Jansen

Arch Dis Child· October 2013

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Hair-on-end.
Bridget Mnapo, Michael Shields, Klaas Koop

Am J Trop Med Hyg· April 2013

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Case 34-2012: Severe pain, bleeding, and shock during labor.
Klaas Koop, Jos van Roosmalen, Thomas van den Akker

N Engl J Med· February 2013

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[A neonate with peculiarly arranged skin abnormalities].
Klaas Koop, Eva P Baerends, C J G Koos Sanders

Ned Tijdschr Geneeskd· January 2013

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Pellagra: a non-communicable disease of poverty.
Gerard-Peter G M Frank, Daniëlle M Voorend, Andrew Chamdula, Joep J van Oosterhout, Klaas Koop

Trop Doct· July 2012

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C4d staining in renal allograft biopsies with early acute rejection and subsequent clinical outcome.
Johanna M Botermans, Hanneke de Kort, Michael Eikmans, Klaas Koop, Hans J Baelde

Clin J Am Soc Nephrol· May 2011

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