Nutrient Status and Intakes of Adults with Phenylketonuria von Venegas, Eva, Langeveld, Simone, Ahring, Kirsten, Benitez, Rosa, Desloovere, An, Dios, Elena, Gómez, Eva, Hermida, Alvaro, Marsaux, Cyril, Verloo, Patrick, Couce, Maria-Luz

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Two cases of DCDC2‐related neonatal sclerosing cholangitis with developmental delay and literature review von Syryn, Hannes, Hoorens, Anne, Grammatikopoulos, Tassos, Deheragoda, Maesha, Symoens, Sofie, Vande Velde, Saskia, Van Biervliet, Stephanie, Van Winckel, Myriam, Verloo, Patrick, Callewaert, Bert, De Bruyne, Ruth

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Galactokinase deficiency: lessons from the GalNet registry von Rubio-Gozalbo, M. Estela, Derks, Britt, Das, Anibh Martin, Meyer, Uta, Möslinger, Dorothea, Couce, M. Luz, Empain, Aurélie, Ficicioglu, Can, Juliá Palacios, Natalia, De Los Santos De Pelegrin, Mariela M., Rivera, Isabel A., Scholl-Bürgi, Sabine, Bosch, Annet M., Cassiman, David, Demirbas, Didem, Gautschi, Matthias, Knerr, Ina, Labrune, Philippe, Skouma, Anastasia, Verloo, Patrick, Wortmann, Saskia B., Treacy, Eileen P., Timson, David J., Berry, Gerard T.

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Towards an Algorithm-Based Tailored Treatment of Acute Neonatal Hyperammonemia von Eloot, Sunny, De Rudder, Jonathan, Verloo, Patrick, Dhont, Evelyn, Raes, Ann, Van Biesen, Wim, Snauwaert, Evelien

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Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA) von Schuermans, Nika, Hemelsoet, Dimitri, Terryn, Wim, Steyaert, Sanne, Van Coster, Rudy, Coucke, Paul J, Steyaert, Wouter, Callewaert, Bert, Bogaert, Elke, Verloo, Patrick, Vanlander, Arnaud V, Debackere, Elke, Ghijsels, Jody, LeBlanc, Pontus, Verdin, Hannah, Naesens, Leslie, Haerynck, Filomeen, Callens, Steven, Dermaut, Bart, Poppe, Bruce

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Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and Syndactyly von Stouffs, Katrien, Verloo, Patrick, Brock, Stefanie, Regal, Luc, Beysen, Diane, Ceulemans, Barten, Jansen, Anna C., Meuwissen, Marije E. C.

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Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling von Schuermans, Nika, El Chehadeh, Salima, Hemelsoet, Dimitri, Gautheron, Jérémie, Vantyghem, Marie-Christine, Nouioua, Sonia, Tazir, Meriem, Vigouroux, Corinne, Auclair, Martine, Bogaert, Elke, Dufour, Sara, Okawa, Fumiya, Hilbert, Pascale, Van Doninck, Nike, Taquet, Marie-Caroline, Rosseel, Toon, De Clercq, Griet, Debackere, Elke, Van Haverbeke, Carole, Cherif, Ferroudja Ramdane, Urtizberea, Jon Andoni, Chanson, Jean-Baptiste, Funalot, Benoit, Authier, François-Jérôme, Kaya, Sabine, Terryn, Wim, Callens, Steven, Depypere, Bernard, Van Dorpe, Jo, Poppe, Bruce, Impens, Francis, Mizushima, Noboru, Depienne, Christel, Jéru, Isabelle, Dermaut, Bart

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Plasmodium falciparum-activated Chloride Channels Are Defective in Erythrocytes from Cystic Fibrosis Patients von Verloo, Patrick, Kocken, Clemens H.M., Van der Wel, Annemarie, Tilly, Ben C., Hogema, Boris M., Sinaasappel, Maarten, Thomas, Alan W., De Jonge, Hugo R.

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Hashimoto encephalopathy and antibodies against dimethylargininase-1: A rare cause of cognitive decline in a pediatric Down's syndrome patient von Helene, Verhelst, Patrick, Verloo, Boel, De Paepe, Gini, Beatrice, Bruno, Bonetti, Rudy, Van Coster

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A child presenting with severe hypertension and circulatory failure, a diagnostic conundrum: Questions von Keenswijk, Werner, Verloo, Patrick, Walle, Johan Vande

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Simultaneous determination of cytosolic aminoacyl-tRNA synthetase activities by LC-MS/MS von Mendes, Marisa I, Wolf, Nicole I, Rudinger-Thirion, Joëlle, Lenz, Dominic, Frugier, Magali, Verloo, Patrick, Mandel, Hanna, Manor, Joshua, Kassel, Rachel, Corpeleijn, Willemijn E, van der Rijt, Sanne, Schroor, Elsbeth M, van Dooren, Silvy J M, Staufner, Christian, Salomons, Gajja S, Smith, Desirée E C

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Nutrient status and intakes of adults with phenylketonuria von Venegas, Eva, Langeveld, Simone, Ahring, Kirsten, Benitez, Rosa, Desloovere, An, Dios, Elena, Gómez, Eva, Hermida, Alvaro, Marsaux, Cyril, VERLOO, PATRICK, Couce, Maria-Luz

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Spastic paraplegia with crystalline retinopathy: A recognisable phenotype? von Verloo, Patrick, Delbeke, Patricia, Van Coster, Rudy

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TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism von Jennions, Elizabeth, Hedberg‐Oldfors, Carola, Berglund, Anna‐Karin, Kollberg, Gittan, Törnhage, Carl‐Johan, Eklund, Erik A., Oldfors, Anders, Verloo, Patrick, Vanlander, Arnaud V., De Meirleir, Linda, Seneca, Sara, Sterky, Fredrik H., Darin, Niklas

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Towards an algorithm-based tailored treatment of acute neonatal hyperammonemia von Eloot, Sunny, De Rudder, Jonathan, VERLOO, PATRICK, Dhont, Evelyn, Raes, Ann, Van Biesen, Wim, Snauwaert, Evelien

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ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures von Poggio, Elena, Barazzuol, Lucia, Salmaso, Andrea, Milani, Celeste, Deligiannopoulou, Adamantia, Cazorla, Ángeles García, Jang, Se Song, Juliá-Palacios, Natalia, Keren, Boris, Kopajtich, Robert, Lynch, Sally Ann, Mignot, Cyril, Moorwood, Catherine, Neuhofer, Christiane, Nigro, Vincenzo, Oostra, Anna, Prokisch, Holger, Saillour, Virginie, Schuermans, Nika, Torella, Annalaura, Verloo, Patrick, Yazbeck, Elise, Zollino, Marcella, Jech, Robert, Winkelmann, Juliane, Necpal, Jan, Calì, Tito, Brini, Marisa, Zech, Michael

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Hypocretin-1 deficiency in a girl with ROHHAD syndrome von Dhondt, Karlien, Verloo, Patrick, Verhelst, Hélène, Van Coster, Rudy, Overeem, Sebastiaan

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Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia von NAMAVAR, Yasmin, BARTH, Peter G, BASEL-VANAGAITE, Lina, EGGENS, Veerle R. C, KRÄGELOH-MANN, Ingeborg, DE MEIRLEIR, Linda, KING, Mary, GRAHAM JR, John M, VON MOERS, Arpad, KNOERS, Nine, SZTRIHA, Laszlo, KORINTHENBERG, Rudolf, KASHER, Paul R, DOBYNS, William B, BAAS, Frank, TIEN POLL-THE, Bwee, VAN RUISSEN, Fred, BROCKMANN, Knut, BERNERT, Günther, WRITZL, Karin, VENTURA, Karen, CHENG, Edith Y, FERRIERO, Donna M

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Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement von Naesens, Leslie, Nemegeer, Josephine, Roelens, Filip, Vallaeys, Lore, Meuwissen, Marije, Janssens, Katrien, Verloo, Patrick, Ogunjimi, Benson, Hemelsoet, Dimitri, Hoste, Levi, Roels, Lisa, De Bruyne, Marieke, De Baere, Elfride, Van Dorpe, Jo, Dendooven, Amélie, Sieben, Anne, Rice, Gillian I., Kerre, Tessa, Beyaert, Rudi, Uggenti, Carolina, Crow, Yanick J., Tavernier, Simon J., Maelfait, Jonathan, Haerynck, Filomeen

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NR4A2 causes an autism spectrum disorder von Verhelst, Helene, Verloo, Patrick, Dheedene, Annelies, Callewaert, Bert, Menten, Björn

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