Prime editing for functional repair in patient-derived disease models von Schene, Imre F., Joore, Indi P., Oka, Rurika, Mokry, Michal, van Vugt, Anke H. M., van Boxtel, Ruben, van der Doef, Hubert P. J., van der Laan, Luc J. W., Verstegen, Monique M. A., van Hasselt, Peter M., Nieuwenhuis, Edward E. S., Fuchs, Sabine A.

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Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications von Haijes, Hanneke A., Jans, Judith J. M., Tas, Simone Y., Verhoeven‐Duif, Nanda M., Hasselt, Peter M.

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Glucose transporter type 1 deficiency syndrome and the ketogenic diet von Schwantje, Marit, Verhagen, Lilly M., Hasselt, Peter M., Fuchs, Sabine A.

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Aminoacyl-tRNA synthetase deficiencies in search of common themes von Fuchs, Sabine A., Schene, Imre F., Kok, Gautam, Jansen, Jurriaan M., Nikkels, Peter G. J., van Gassen, Koen L. I., Terheggen-Lagro, Suzanne W. J., van der Crabben, Saskia N., Hoeks, Sanne E., Niers, Laetitia E. M., Wolf, Nicole I., de Vries, Maaike C., Koolen, David A., Houwen, Roderick H. J., Mulder, Margot F., van Hasselt, Peter M.

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Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategies von Haijes, Hanneke A., Hasselt, Peter M., Jans, Judith J. M., Verhoeven‐Duif, Nanda M.

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Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder von Lipstein, Noa, Verhoeven-Duif, Nanda M, Michelassi, Francesco E, Calloway, Nathaniel, van Hasselt, Peter M, Pienkowska, Katarzyna, van Haaften, Gijs, van Haelst, Mieke M, van Empelen, Ron, Cuppen, Inge, van Teeseling, Heleen C, Evelein, Annemieke M V, Vorstman, Jacob A, Thoms, Sven, Jahn, Olaf, Duran, Karen J, Monroe, Glen R, Ryan, Timothy A, Taschenberger, Holger, Dittman, Jeremy S, Rhee, Jeong-Seop, Visser, Gepke, Jans, Judith J, Brose, Nils

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Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation von Bhat, Shreyas, Rousseau, Justine, Michaud, Coralie, Lourenço, Charles Marques, Stoler, Joan M., Louie, Raymond J., Clarkson, Lola K., Lichty, Angie, Koboldt, Daniel C., Reshmi, Shalini C., Sisodiya, Sanjay M., Hoytema van Konijnenburg, Eva M.M., Koop, Klaas, van Hasselt, Peter M., Démurger, Florence, Dubourg, Christèle, Sullivan, Bonnie R., Hughes, Susan S., Thiffault, Isabelle, Tremblay, Elisabeth Simard, Accogli, Andrea, Srour, Myriam, Blunck, Rikard, Campeau, Philippe M.

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Prevention of Vitamin K Deficiency Bleeding in Breastfed Infants: Lessons From the Dutch and Danish Biliary Atresia Registries von 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, and Netherlands Study Group for Biliary Atresia Registry

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IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients von Mignot, Cyril, McMahon, Aoife C., Bar, Claire, Campeau, Philippe M, Davidson, Claire, Buratti, Julien, Nava, Caroline, Jacquemont, Marie-Line, Tallot, Marilyn, Milh, Mathieu, Edery, Patrick, Marzin, Pauline, Barcia, Giulia, Barnerias, Christine, Besmond, Claude, Bienvenu, Thierry, Bruel, Ange-Line, Brunga, Ledia, Ceulemans, Berten, Coubes, Christine, Cristancho, Ana G., Cunningham, Fiona, Dehouck, Marie-Bertille, Donner, Elizabeth J., Duban-Bedu, Bénédicte, Dubourg, Christèle, Gardella, Elena, Gauthier, Julie, Geneviève, David, Gobin-Limballe, Stéphanie, Goldberg, Ethan M., Hagebeuk, Eveline, Hamdan, Fadi F., Hančárová, Miroslava, Hubert, Laurence, Ioos, Christine, Ichikawa, Shoji, Janssens, Sandra, Journel, Hubert, Kaminska, Anna, Keren, Boris, Koopmans, Marije, Lacoste, Caroline, Laššuthová, Petra, Lederer, Damien, Lehalle, Daphné, Marjanovic, Dragan, Métreau, Julia, Michaud, Jacques L., Miller, Kathryn, Minassian, Berge A., Morales, Joannella, Moutard, Marie-Laure, Munnich, Arnold, Ortiz-Gonzalez, Xilma R., Pinard, Jean-Marc, Prchalová, Darina, Putoux, Audrey, Quelin, Chloé, Rosen, Alyssa R., Roume, Joelle, Rossignol, Elsa, Simon, Marleen E. H., Smol, Thomas, Shur, Natasha, Shelihan, Ivan, Štěrbová, Katalin, Vyhnálková, Emílie, Vilain, Catheline, Soblet, Julie, Smits, Guillaume, Yang, Samuel P., van der Smagt, Jasper J., van Hasselt, Peter M., van Kempen, Marjan, Weckhuysen, Sarah, Helbig, Ingo, Villard, Laurent, Héron, Delphine, Koeleman, Bobby, Møller, Rikke S., Lesca, Gaetan, Helbig, Katherine L., Nabbout, Rima, Verbeek, Nienke E., Depienne, Christel

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Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy von Ait-El-Mkadem, Samira, Dayem-Quere, Manal, Gusic, Mirjana, Chaussenot, Annabelle, Bannwarth, Sylvie, François, Bérengère, Genin, Emmanuelle C., Fragaki, Konstantina, Volker-Touw, Catharina L.M., Vasnier, Christelle, Serre, Valérie, van Gassen, Koen L.I., Lespinasse, Françoise, Richter, Susan, Eisenhofer, Graeme, Rouzier, Cécile, Mochel, Fanny, De Saint-Martin, Anne, Abi Warde, Marie-Thérèse, de Sain-van der Velde, Monique G.M., Jans, Judith J.M., Amiel, Jeanne, Avsec, Ziga, Mertes, Christian, Haack, Tobias B., Strom, Tim, Meitinger, Thomas, Bonnen, Penelope E., Taylor, Robert W., Gagneur, Julien, van Hasselt, Peter M., Rötig, Agnès, Delahodde, Agnès, Prokisch, Holger, Fuchs, Sabine A., Paquis-Flucklinger, Véronique

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Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy init... von Schoenmakers, Daphne H, Beerepoot, Shanice, van den Berg, Sibren, Adang, Laura, Bley, Annette, Boelens, Jaap-Jan, Fumagalli, Francesca, Goettsch, Wim G, Grønborg, Sabine, Groeschel, Samuel, van Hasselt, Peter M, Hollak, Carla E M, Lindemans, Caroline, Mochel, Fanny, Mol, Peter G M, Sevin, Caroline, Zerem, Ayelet, Schöls, Ludger, Wolf, Nicole I

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Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS von Rumping, Lynne, Jans, Judith J, van Hasselt, Peter M, van Kuilenburg, André B.P, Usdin, Karen, van Karnebeek, Clara D.M

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Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction von Panneman, Daan M., Wortmann, Saskia B., Haaxma, Charlotte A., Hasselt, Peter M., Wolf, Nicole I., Hendriks, Yvonne, Küsters, Benno, Emst‐de Vries, Sjenet, Westerlo, Els, Koopman, Werner J.H., Wintjes, Liesbeth, Brandt, Frans, Vries, Maaike, Lefeber, Dirk J., Smeitink, Jan A.M., Rodenburg, Richard J.

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Untargeted Metabolomics for Metabolic Diagnostic Screening with Automated Data Interpretation Using a Knowledge-Based Algorithm von Haijes, Hanneke A., van der Ham, Maria, Prinsen, Hubertus C. M. T., Broeks, Melissa H., van Hasselt, Peter M., de Sain-van der Velden, Monique G. M., Verhoeven-Duif, Nanda M., Jans, Judith J. M.

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Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients' Dried Blood Spots and Plasma von Haijes, Hanneke A, Willemsen, Marcel, Van der Ham, Maria, Gerrits, Johan, Pras-Raves, Mia L, Prinsen, Hubertus C M T, Van Hasselt, Peter M, De Sain-van der Velden, Monique G M, Verhoeven-Duif, Nanda M, Jans, Judith J M

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Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-juvenile neuronal ceroid lipofuscinosis von Gomez-Giro, Gemma, Arias-Fuenzalida, Jonathan, Jarazo, Javier, Zeuschner, Dagmar, Ali, Muhammad, Possemis, Nina, Bolognin, Silvia, Halder, Rashi, Jäger, Christian, Kuper, Willemijn F E, van Hasselt, Peter M, Zaehres, Holm, Del Sol, Antonio, van der Putten, Herman, Schöler, Hans R, Schwamborn, Jens C

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Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients von van Vliet, Kimber, van Ginkel, Willem G, Jahja, Rianne, Daly, Anne, MacDonald, Anita, De Laet, Corinne, Vara, Roshni, Rahman, Yusof, Cassiman, David, Eyskens, Francois, Timmer, Corrie, Mumford, Nicky, Bierau, Jörgen, van Hasselt, Peter M, Gissen, Paul, Goyens, Philippe J, McKiernan, Patrick J, Wilcox, Gisela, Morris, Andrew A M, Jameson, Elisabeth A, Huijbregts, Stephan C J, van Spronsen, Francjan J

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Vitamin B6 in plasma and cerebrospinal fluid of children von Albersen, Monique, Bosma, Marjolein, Jans, Judith J M, Hofstede, Floris C, van Hasselt, Peter M, de Sain-van der Velden, Monique G M, Visser, Gepke, Verhoeven-Duif, Nanda M

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Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes von Fuchs, Sabine A., Schene, Imre F., Kok, Gautam, Jansen, Jurriaan M., Nikkels, Peter G.J., van Gassen, Koen L.I., Terheggen-Lagro, Suzanne W.J., van der Crabben, Saskia N., Hoeks, Sanne E., Niers, Laetitia E.M., Wolf, Nicole I., de Vries, Maaike C., Koolen, David A., Houwen, Roderick H.J., Mulder, Margot F., van Hasselt, Peter M.

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Metabolic profiles in children during fasting von 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

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