BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening by Tangeraas, Trine, Constante, Juliana R, Backe, Paul Hoff, Oyarzábal, Alfonso, Neugebauer, Julia, Weinhold, Natalie, Boemer, Francois, Debray, François G, Ozturk-Hism, Burcu, Evren, Gumus, Tuba, Eminoglu F, Ummuhan, Oncul, Footitt, Emma, Davison, James, Martinez, Caroline, Bueno, Clarissa, Machado, Irene, Rodríguez-Pombo, Pilar, Al-Sannaa, Nouriya, De Los Santos, Mariela, López, Jordi Muchart, Ozturkmen-Akay, Hatice, Karaca, Meryem, Tekin, Mustafa, Pajares, Sonia, Ormazabal, Aida, Stoway, Stephanie D, Artuch, Rafael, Dixon, Marjorie, Mørkrid, Lars, García-Cazorla, Angeles

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Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency by DEBRAY, Francois-G, LAMBERT, Marie, VANASSE, Michel, DECARIE, Jean-Claude, CAMERON, Jessie, LEVANDOVSKIY, Valeriy, ROBINSON, Brian H, MITCHELL, Grant A

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The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II) by Parenti, Giancarlo, Fecarotta, Simona, Alagia, Marianna, Attaianese, Federica, Verde, Alessandra, Tarallo, Antonietta, Gragnaniello, Vincenza, Ziagaki, Athanasia, Guimaraes, Maria Jose', Aguiar, Patricio, Hahn, Andreas, Azevedo, Olga, Donati, Maria Alice, Kiec-Wilk, Beata, Scarpa, Maurizio, van der Beek, Nadine A M E, Del Toro Riera, Mireja, Germain, Dominique P, Huidekoper, Hidde, van den Hout, Johanna M P, van der Ploeg, Ans T

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The European reference network for metabolic diseases by Parenti, Giancarlo, Fecarotta, Simona, Alagia, Marianna, Attaianese, Federica, Verde, Alessandra, Tarallo, Antonietta, Gragnaniello, Vincenza, Ziagaki, Athanasia, Guimaraes, Maria Jose, Aguiar, Patricio, Hahn, Andreas, Azevedo, Olga, Donati, Maria Alice, Kiec-Wilk, Beata, Scarpa, Maurizio, van der Beek, Nadine A. M. E, Del Toro Riera, Mireja, Germain, Dominique P, Huidekoper, Hidde, van den Hout, Johanna M. P, van der Ploeg, Ans T, Baric, Ivo, Batzios, Spyros, Belmatoug, Nadia, Bordugo, Andrea, Bosch, Annet M, Brassier, Anais, Burlina, Alberto, Cassiman, David, Chabrol, Brigitte, Chronopoulou, Efstathia, Couce-Pico, Maria Luz, Darin, Niklas, Das, Anibh M, Debray, Francois G, Deegan, Patrick, de Abreu Freire Diogo Matos, Luisa M, De Las Heras Montero, Javier, Di Rocco, Maja, Dobbelaere, Dries, Eyskens, Francois, Ferreira, Ana, Gaspar, Ana M, Gasperini, Serena, López, Antonio González-Meneses, Grosso, Salvatore, Guffon-Fouilhoux, Nathalie, Hennermann, Julia, Hiwot, Tarekegn G, Jones, Simon, Kingma, Sandra, Komninaka, Veroniki, Martín-Hernández, Elena, Martins, Esmeralda, Miclea, Diana, Pfliegler, György, Rodrigues, Esmeralda, Rokicki, Dariusz, Roland, Dominique, Rutsch, Frank, Salviati, Alessandro, Tournev, Ivailo, Ullrich, Kurt, van Hasselt, Peter M, Vijay, Suresh, Weinhold, Natalie, Witters, Peter, Zeman, Jiri

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Individual participant data meta‐analysis to examine interactions between treatment effect and participant‐level covariates: Statistical recommendations for conduct and planning... by Riley, Richard D., Debray, Thomas P.A., Fisher, David, Hattle, Miriam, Marlin, Nadine, Hoogland, Jeroen, Gueyffier, Francois, Staessen, Jan A., Wang, Jiguang, Moons, Karel G.M., Reitsma, Johannes B., Ensor, Joie

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Patients With Aldolase B Deficiency Are Characterized by Increased Intrahepatic Triglyceride Content by Simons, Nynke, Debray, François-Guillaume, Schaper, Nicolaas C, Kooi, M Eline, Feskens, Edith J M, Hollak, Carla E M, Lindeboom, Lucas, Koek, Ger H, Bons, Judith A P, Lefeber, Dirk J, Hodson, Leanne, Schalkwijk, Casper G, Stehouwer, Coen D A, Cassiman, David, Brouwers, Martijn C G J

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Diagnostic pitfall in antenatal manifestations of CPT II deficiency by Boemer, F., Deberg, M., Schoos, R., Caberg, J.-H., Gaillez, S., Dugauquier, C., Delbecque, K., François, A., Maton, P., Demonceau, N., Senterre, G., Ferdinandusse, S., Debray, F.-G.

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Reproduction, smell, and neurodevelopmental disorders: genetic defects in different hypogonadotropic hypogonadal syndromes by Valdes-Socin, Hernan, Rubio Almanza, Matilde, Tomé Fernández-Ladreda, Mariana, Debray, François Guillaume, Bours, Vincent, Beckers, Albert

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A next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseases by Boemer, F., Fasquelle, C., d’Otreppe, S., Josse, C., Dideberg, V., Segers, K., Guissard, V., Capraro, V., Debray, FG, Bours, V.

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Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey by van Wegberg, Annemiek M.J., Trefz, Friedrich, Gizewska, Maria, Ahmed, Sibtain, Chabraoui, Layachi, van Spronsen, Francjan J., Al Mutairi, F., Arnoux, J.B., Ballhausen, D., Baruteau, J., Bernstein, L., Bijarnia-Mahay, S., Bordugo, A., Brodosi, L., Brooks, S., Chew, H.B., Chyz, K., Coker, M., Collingwood, C., Cornejo, V., Cozens, A., Das, A.M., de las Heras Montero, J., Debray, F.G., Dercksen, M., Descartes, M., Eminoglu, F.T., Enns, G.M., Ford, S., Freisinger, P., Grafakou, O., Gramer, G., Gray, S., Groselj, U., Grünert, S.C., Haas, D., Handoom, B., Harte, T.B., Hendriksz, C., Hoi-Yee Wu, T., Jamuar, S.S., Jonsson, J.J., Jovanovic, A., Kern, I., Kilavuz, S., Knerr, I., Korycinska-Chaaban, D., Kreile, M., Kumru, B., Lanpher, B., Lapatto, R., Leao-Teles, E., Leuzzi, V., Longo, N., Lopez-Uriarte, A., Lubout, C.M.A., MacDonald, A., Mitchell, J., Mochel, F., Morris, A., Moura de Souza, C.F., Munoz, T., Oscarson, M., Õunap, K., Paci, S., Pastores, G.M., Pearl, P.L., Pitt, J., Poon, G., Presner, N., Rabaty, A.A., Reinson, K., Reismann, P., Rink, T., Rocha, J.C., Rodrigues, E., Saini, A.G., Sander, J., Schwartz, I.V.D., Sharma, R., Siriwardena, K., Sirrs, S., Sjarif, D.R., Sondheimer, N., Sparkes, R., Specola, N., Stepien, K.M., Szatmari, I., Tchan, M., Valle, M.G., Vela-Amieva, M., Verdaguer, M.L., Vergano, S.A., Vermeersch, P., Wagenmakers, M.A.E.M., Weinhold, N., Wilson, W.G., Zafeiriou, D., Zhang, H., Ziagaki, A.

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Kidney and vascular function in adult patients with hereditary fructose intolerance by Simons, Nynke, Debray, François-Guillaume, Schaper, Nicolaas C., Feskens, Edith J.M., Hollak, Carla E.M., Bons, Judith A.P., Bierau, Jörgen, Houben, Alfons J.H.M., Schalkwijk, Casper G., Stehouwer, Coen D.A., Cassiman, David, Brouwers, Martijn C.G.J.

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Endarterectomy Versus Angioplasty in Patients with Symptomatic Severe Carotid Stenosis (EVA-3S) trial: results up to 4 years from a randomised, multicentre trial by Mas, Jean-Louis, PhD, Trinquart, Ludovic, MSc, Leys, Didier, PhD, Albucher, Jean-François, MD, Rousseau, Hervé, PhD, Viguier, Alain, MD, Bossavy, Jean-Pierre, PhD, Denis, Béatrice, MD, Piquet, Philippe, PhD, Garnier, Pierre, MD, Viader, Fausto, PhD, Touzé, Emmanuel, PhD, Julia, Pierre, PhD, Giroud, Maurice, PhD, Krause, Denis, PhD, Hosseini, Hassan, PhD, Becquemin, Jean-Pierre, PhD, Hinzelin, Grégoire, MD, Houdart, Emmanuel, PhD, Hénon, Hilde, PhD, Neau, Jean-Philippe, PhD, Bracard, Serge, PhD, Onnient, Yannick, MD, Padovani, Raymond, MD, Chatellier, Gilles, PhD

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HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients by Moortgat, Stéphanie, Berland, Siren, Aukrust, Ingvild, Maystadt, Isabelle, Baker, Laura, Benoit, Valerie, Caro-Llopis, Alfonso, Cooper, Nicola S, Debray, François-Guillaume, Faivre, Laurence, Gardeitchik, Thatjana, Haukanes, Bjørn I, Houge, Gunnar, Kivuva, Emma, Martinez, Francisco, Mehta, Sarju G, Nassogne, Marie-Cécile, Powell-Hamilton, Nina, Pfundt, Rolph, Rosello, Monica, Prescott, Trine, Vasudevan, Pradeep, van Loon, Barbara, Verellen-Dumoulin, Christine, Verloes, Alain, Lippe, Charlotte von der, Wakeling, Emma, Wilkie, Andrew O M, Wilson, Louise, Yuen, Amy, Study, Ddd, Low, Karen J, Newbury-Ecob, Ruth A

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Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network by Heard, Jean-Michel, Vrinten, Charlotte, Schlander, Michael, Bellettato, Cinzia Maria, van Lingen, Corine, Scarpa, Maurizio

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BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects by Hilton, Emma, Johnston, Jennifer, Whalen, Sandra, Okamoto, Nobuhiko, Hatsukawa, Yoshikazu, Nishio, Juntaro, Kohara, Hiroshi, Hirano, Yoshiko, Mizuno, Seiji, Torii, Chiharu, Kosaki, Kenjiro, Manouvrier, Sylvie, Boute, Odile, Perveen, Rahat, Law, Caroline, Moore, Anthony, Fitzpatrick, David, Lemke, Johannes, Fellmann, Florence, Debray, François-Guillaume, Dastot-Le-Moal, Florence, Gerard, Marion, Martin, Josiane, Bitoun, Pierre, Goossens, Michel, Verloes, Alain, Schinzel, Albert, Bartholdi, Deborah, Bardakjian, Tanya, Hay, Beverly, Jenny, Kim, Johnston, Kathreen, Lyons, Michael, Belmont, John W, Biesecker, Leslie G, Giurgea, Irina, Black, Graeme

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Anatomical and Technical Factors Associated With Stroke or Death During Carotid Angioplasty and Stenting: Results From the Endarterectomy Versus Angioplasty in Patients With Sympto... by NAGGARA, Olivier, TOUZE, Emmanuel, BEYSSEN, Bernard, TRINQUART, Ludovic, CHATELLIER, Gilles, MEDER, Jean-François, MAS, Jean-Louis

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Left ventricular assist device as bridge to liver transplantation in a patient with propionic acidemia and cardiogenic shock by Ameloot, Koen, MD, Vlasselaers, Dirk, MD, Dupont, Matthias, MD, Meersseman, Wouter, MD, PhD, Desmet, Lars, MD, PhD, Vanhaecke, Johan, MD, PhD, Vermeer, Nina, MD, Meyns, Bart, MD, PhD, Pirenne, Jacques, MD, PhD, Cassiman, David, MD, PhD, De Laet, Corinne, MD, Goyens, Philippe, MD, PhD, Malekzadeh-Milan, Sophie G., MD, Biarent, Dominique, MD, Meulemans, Ann, MD, PhD, Debray, François-Guillaume, MD, PhD

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Chronic use of renin‐angiotensin‐aldosterone system blockers and mortality in COVID‐19: A multicenter prospective cohort and literature review by Cabié, André, Chirouze, Catherine, Deconinck, Laurène, Costagliola, Dominique, Léy‐Marchal, Claire, Beluze, Marine, Duval, Xavier, Esposito‐Farèse, Marina, Kafif, Ouifiya, Laribi, Samira, Le Hingrat, Quentin, Mentré, France, Mullaert, Jimmy, Tagherset, Lysa, Tardivon, Coralie, Deplanque, Dominique, Pages, Justine, Esperou, Hélène, Jaafoura, Salma, Mambert, Marina, Téoulé, François, Enouf, Vincent, Mouquet, Hugo, Noret, Marion, Redl, Sarah, Granier, Pascal, Ducancelle, Alexandra, Dubee, Vincent, Sallaberry, Stéphane, Gagnard, Jean‐Charles, Mouton Perrot, Clara, Vauchy, Charline, Tissot, Noémie, Casanova, Marie‐Laure, Dournon, Nathalie, Bouhour, Damien, Chassin, Camille, Bodenes, Laetitia, Djossou, Felix, Mergeayfabre, Mayka, Pierobon, Carola, Carret, Marie‐Christine, Maitre, Thomas, Auvet, Adrien, Kerroumi, Younes, Mabiala, Oryane, Sandrine, Pierre‐François, Hamidfar, Rebecca, Curlier, Elodie, Fabre, Isabelle, Picone, Olivier, Jaureguiberry, Stéphane, Cheret, Antoine, Guimard, Thomas, Cousse, Stéphanie, Stabler, Sarah, Scherpereel, Arnaud, Bitker, Laurent, Benech, Nicolas, Dussol, Bertrand, Leone, Marc, Pastene, Bruno, Loutfi, Bouchra, Bevilacqua, Sibylle, Bouchez, Sabelline, Guery, Romain, Mear‐Passard, Cécile, Demonchy, Elisa, De Montmollin, Etienne, Patrier, Juliette, Borie, Raphael, Goulenok, Tiphaine, Launay, Odile, Livrozet, Marine, Azemar, Laurène, Truong, Jeanne, Chiarabini, Thibault, Picard, Walter, Aumaître, Hugues, Pironneau, Isabelle, Lesouhaitier, Matthieu, Tattevin, Pierre, Lemee, Véronique, Artaud‐Maccari, Elise, Lagrange, Marie, Jabot, Julien, Hachemi, Ali, Fourn, Erwan, Jaud‐Fischer, Coline, Debard, Alexa, Murris, Marlène, Lairez, Olivier, Robineau, Olivier, Meybeck, Agnès, Lemaignen, Adrien, Mankikian, Julie, Flament, Thomas, Langelot‐Richard, Marie, Richier, Laurent, Badr, Claudine

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Research activity and capability in the European reference network MetabERN by Heard, Jean-Michel, Bellettato, Cinzia, van Lingen, Corine, Scarpa, Maurizio

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Diagnostic accuracy of C-reactive protein and procalcitonin in suspected community-acquired pneumonia adults visiting emergency department and having a systematic thoracic CT scan by Le Bel, Josselin, Hausfater, Pierre, Chenevier-Gobeaux, Camille, Blanc, François-Xavier, Benjoar, Mikhael, Ficko, Cécile, Ray, Patrick, Choquet, Christophe, Duval, Xavier, Claessens, Yann-Erick

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