Long-term cognitive and cardiac outcomes after prenatal exposure to chemotherapy in children aged 18 months or older: an observational study von Amant, Frédéric, Dr, Van Calsteren, Kristel, PhD, Halaska, Michael J, PhD, Gziri, Mina Mhallem, MD, Hui, Wei, MD, Lagae, Lieven, PhD, Willemsen, Michèl A, PhD, Kapusta, Livia, PhD, Van Calster, Ben, PhD, Wouters, Heidi, MSc, Heyns, Liesbeth, MSc, Han, Sileny N, MD, Tomek, Viktor, MD, Mertens, Luc, PhD, Ottevanger, Petronella B, PhD

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The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role von Bisello, Giovanni, Kusmierska, Katarzyna, Verbeek, Marcel M., Sykut–Cegielska, Jolanta, Willemsen, Michèl A. A. P., Wevers, Ron A., Szymańska, Krystyna, Poznanski, Jarosław, Drozak, Jakub, Wertheim–Tysarowska, Katarzyna, Rygiel, Agnieszka Magdalena, Bertoldi, Mariarita

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Cerebrospinal fluid glucose and lactate: age-specific reference values and implications for clinical practice von Leen, Wilhelmina G, Willemsen, Michèl A, Wevers, Ron A, Verbeek, Marcel M

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Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications von Schobers, Gaby, Schieving, Jolanda H, Yntema, Helger G, Pennings, Maartje, Pfundt, Rolph, Derks, Ronny, Hofste, Tom, de Wijs, Ilse, Wieskamp, Nienke, van den Heuvel, Simone, Galbany, Jordi Corominas, Gilissen, Christian, Nelen, Marcel, Brunner, Han G, Kleefstra, Tjitske, Kamsteeg, Erik-Jan, Willemsen, Michèl A. A. P, Vissers, Lisenka E. L. M

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Lactate infusion as therapeutical intervention: a scoping review von van Gemert, Loes A., de Galan, Bastiaan E., Wevers, Ron A., ter Heine, Rob, Willemsen, Michèl A.

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Predicting non‐response to intraglandular botulinum neurotoxin A injections for drooling in children with neurodevelopmental disabilities von Orriëns, Lynn B., Hulst, Karen, Willemsen, Michèl A. A. P., Hoogen, Frank J. A., Erasmus, Corrie E.

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Comparing the evidence for botulinum neurotoxin injections in paediatric anterior drooling: a scoping review von Orriëns, Lynn B., van Hulst, Karen, van der Burg, Jan J. W., van den Hoogen, Frank J. A., Willemsen, Michèl A. A. P., Erasmus, Corrie E.

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Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan von Roscioli, Tony, Kamsteeg, Erik-Jan, Buysse, Karen, Maystadt, Isabelle, van Reeuwijk, Jeroen, van den Elzen, Christa, van Beusekom, Ellen, Riemersma, Moniek, Pfundt, Rolph, Vissers, Lisenka E L M, Schraders, Margit, Altunoglu, Umut, Buckley, Michael F, Brunner, Han G, Grisart, Bernard, Zhou, Huiqing, Veltman, Joris A, Gilissen, Christian, Mancini, Grazia M S, Delrée, Paul, Willemsen, Michèl A, Ramadža, Danijela Petković, Chitayat, David, Bennett, Christopher, Sheridan, Eamonn, Peeters, Els A J, Tan-Sindhunata, Gita M B, de Die-Smulders, Christine E, Devriendt, Koenraad, Kayserili, Hülya, El-Hashash, Osama Abd El-Fattah, Stemple, Derek L, Lefeber, Dirk J, Lin, Yung-Yao, van Bokhoven, Hans

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Cerebrospinal Fluid Analysis in the Workup of GLUT1 Deficiency Syndrome: A Systematic Review von Leen, Wilhelmina G, Wevers, Ron A, Kamsteeg, Erik-Jan, Scheffer, Hans, Verbeek, Marcel M, Willemsen, Michèl A

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Hypointensity of the Basal Ganglia in Adults with Glucose Transporter Protein Type 1 Deficiency Syndrome: A Novel Magnetic Resonance Imaging Finding von Samkar, Anusha, Leen, Willemijn G., Willemsen, Michèl A. A. P., Verrips, Aad

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Hourly analysis of cerebrospinal fluid glucose shows large diurnal fluctuations von Verbeek, Marcel M, Leen, Wilhelmina G, Willemsen, Michèl A, Slats, Diane, Claassen, Jurgen A

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Genotype, extrapyramidal features, and severity of variant ataxia‐telangiectasia von Schon, Katherine, van Os, Nienke J.H., Oscroft, Nicholas, Baxendale, Helen, Scoffings, Daniel, Ray, Julian, Suri, Mohnish, Whitehouse, William P., Mehta, Puja R., Everett, Natasha, Bottolo, Leonardo, Warrenburg, Bart P., Byrd, Philip J., Weemaes, Corry, Willemsen, Michel A., Tischkowitz, Marc, Taylor, A. Malcolm, Hensiek, Anke E.

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Classic ataxia-telangiectasia: the phenotype of long-term survivors von van Os, Nienke J. H., van Deuren, Marcel, Weemaes, Corry M. R., van Gaalen, Judith, Hijdra, Helma, Taylor, Alexander M. R., van de Warrenburg, Bart P. C., Willemsen, Michèl A. A. P.

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Long-term outcome in pyridoxine-dependent epilepsy von BOK, LEVINUS A, HALBERTSMA, FEICO J, HOUTERMAN, SASKIA, WEVERS, RON A, VREESWIJK, CHARLOTTE, JAKOBS, CORNELIS, STRUYS, EDUARD, VAN DER HOEVEN, JOHAN H, SIVAL, DEBORAH A, WILLEMSEN, MICHÈL A

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Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective von Peters, Tessa M. A., Engelke, Udo F. H., Boer, Siebolt, Reintjes, Joris T. G., Roullet, Jean‐Baptiste, Broekman, Sanne, Vrieze, Erik, Wijk, Erwin, Wamelink, Mirjam M. C., Artuch, Rafael, Barić, Ivo, Merx, Jona, Boltje, Thomas J., Martens, Jonathan, Willemsen, Michèl A. A. P., Verbeek, Marcel M., Wevers, Ron A., Gibson, K. Michael, Coene, Karlien L. M.

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Confirmation of neurometabolic diagnoses using age‐dependent cerebrospinal fluid metabolomic profiles von Peters, Tessa M. A., Engelke, Udo F. H., Boer, Siebolt, Heeft, Ed, Pritsch, Cynthia, Kulkarni, Purva, Wevers, Ron A., Willemsen, Michèl A. A. P., Verbeek, Marcel M., Coene, Karlien L. M.

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Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit von Peters, Tessa M. A., Merx, Jona, Kooijman, Pieter C., Noga, Marek, Boer, Siebolt, Gemert, Loes A., Salden, Guido, Engelke, Udo F. H., Lefeber, Dirk J., Outersterp, Rianne E., Berden, Giel, Boltje, Thomas J., Artuch, Rafael, Pías‐Peleteiro, Leticia, García‐Cazorla, Ángeles, Barić, Ivo, Thöny, Beat, Oomens, Jos, Martens, Jonathan, Wevers, Ron A., Verbeek, Marcel M., Coene, Karlien L. M., Willemsen, Michèl A. A. P.

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Additional data on head circumference in patients with glucose transporter 1 deficiency syndrome: The Glut1 deficiency foundation conference cohort von van Gemert, Loes A., Pascual, Juan M., Willemsen, Michèl A.

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Distinguishing Oligosaccharide Isomers Using Far-Infrared Ion Spectroscopy: Identification of Biomarkers for Inborn Errors of Metabolism von van Outersterp, Rianne E., Kooijman, Pieter C., Merx, Jona, Engelke, Udo F.H., Omidikia, Nematollah, Tonneijck, Mei-Lan H., Houthuijs, Kas J., Berden, Giel, Peters, Tessa M.A., Lefeber, Dirk J., Willemsen, Michel A. A. P., Mecinovic, Jasmin, Jansen, Jeroen J., Coene, Karlien L.M., Wevers, Ron A., Boltje, Thomas J., Oomens, Jos, Martens, Jonathan

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Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects von Willemsen, Marjolein H, Vissers, Lisenka E L, Willemsen, Michèl A A P, van Bon, Bregje W M, Kroes, Thessa, de Ligt, Joep, de Vries, Bert B, Schoots, Jeroen, Lugtenberg, Dorien, Hamel, Ben C J, van Bokhoven, Hans, Brunner, Han G, Veltman, Joris A, Kleefstra, Tjitske

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