A randomized, double‐blind trial of triheptanoin for drug‐resistant epilepsy in glucose transporter 1 deficiency syndrome by Striano, Pasquale, Auvin, Stéphane, Collins, Abigail, Horvath, Rita, Scheffer, Ingrid E., Tzadok, Michal, Miller, Ian, Kay Koenig, Mary, Lacy, Adrian, Davis, Ronald, Garcia‐Cazorla, Angela, Saneto, Russell P., Brandabur, Melanie, Blair, Susan, Koutsoukos, Tony, De Vivo, Darryl

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An overview of inborn errors of metabolism affecting the brain: from neurodevelopment to neurodegenerative disorders by Saudubray, Jean-Marie, Garcia-Cazorla, Angela

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Encephalopathies with intracranial calcification in children: clinical and genetic characterization by Tonduti, Davide, Panteghini, Celeste, Pichiecchio, Anna, Decio, Alice, Carecchio, Miryam, Reale, Chiara, Moroni, Isabella, Nardocci, Nardo, Campistol, Jaume, Garcia-Cazorla, Angela, Perez Duenas, Belen, Chiapparini, Luisa, Garavaglia, Barbara, Orcesi, Simona

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A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis by HAUT, Sandrine, BRIVET, Michèle, TOUATI, Guy, RUSTIN, Pierre, LEBON, Sophie, GARCIA-CAZORLA, Angela, SAUDUBRAY, Jean Marie, BOUTRON, Audrey, LEGRAND, Alain, SLAMA, Abdelhamid

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Clinical presentation and proteomic signature of patients with TANGO2 mutations by Mingirulli, Nadja, Pyle, Angela, Hathazi, Denisa, Alston, Charlotte L., Kohlschmidt, Nicolai, O'Grady, Gina, Waddell, Leigh, Evesson, Frances, Cooper, Sandra B. T., Turner, Christian, Duff, Jennifer, Topf, Ana, Yubero, Delia, Jou, Cristina, Nascimento, Andrés, Ortez, Carlos, García‐Cazorla, Angels, Gross, Claudia, O'Callaghan, Maria, Santra, Saikat, Preece, Maryanne A., Champion, Michael, Korenev, Sergei, Chronopoulou, Efsthatia, Anirban, Majumdar, Pierre, Germaine, McArthur, Daniel, Thompson, Kyle, Navas, Placido, Ribes, Antonia, Tort, Frederic, Schlüter, Agatha, Pujol, Aurora, Montero, Raquel, Sarquella, Georgia, Lochmüller, Hanns, Jiménez‐Mallebrera, Cecilia, Taylor, Robert W., Artuch, Rafael, Kirschner, Janbernd, Grünert, Sarah C., Roos, Andreas, Horvath, Rita

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Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and Medication by Rodriguez-Gonzalez, Helena, Ormazabal, Aida, Casado, Mercedes, Arias, Angela Y, Oliva, Clara, Barranco-Altirriba, Maria, Casadevall, Ricard, García-Cuyas, Francesc, Nascimento, Andrés, Ortez, Carlos, Natera-de Benito, Daniel, Armangué, Thais, O'Callaghan, Maria M, Juliá-Palacios, Natalia, Darling, Alejandra, Ortigoza-Escobar, Juan Darío, Fons, Carmen, García-Cazorla, Angels, Perera-Lluna, Alexandre, Artuch, Rafael

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Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes by Tort, Frederic, Ferrer-Cortès, Xènia, Thió, Marta, Navarro-Sastre, Aleix, Matalonga, Leslie, Quintana, Ester, Bujan, Núria, Arias, Angela, García-Villoria, Judit, Acquaviva, Cecile, Vianey-Saban, Christine, Artuch, Rafael, García-Cazorla, Àngels, Briones, Paz, Ribes, Antonia

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Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome by Ortigoza-Escobar, Juan Darío, Molero-Luis, Marta, Arias, Angela, Oyarzabal, Alfonso, Darín, Niklas, Serrano, Mercedes, Garcia-Cazorla, Angels, Tondo, Mireia, Hernández, María, Garcia-Villoria, Judit, Casado, Mercedes, Gort, Laura, Mayr, Johannes A, Rodríguez-Pombo, Pilar, Ribes, Antonia, Artuch, Rafael, Pérez-Dueñas, Belén

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Study of inborn errors of metabolism in urine from patients with unexplained mental retardation by Sempere, Angela, Arias, Angela, Farré, Guillermo, García-Villoria, Judith, Rodríguez-Pombo, Pilar, Desviat, Lurdes R, Merinero, Begoña, García-Cazorla, Angels, Vilaseca, Maria A, Ribes, Antonia, Artuch, Rafael, Campistol, Jaume

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A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis by Ferrer-Cortès, Xènia, Narbona, Juan, Bujan, Núria, Matalonga, Leslie, Del Toro, Mireia, Arranz, José Antonio, Riudor, Encarnació, Garcia-Cazorla, Angels, Jou, Cristina, O'Callaghan, Mar, Pineda, Mercé, Montero, Raquel, Arias, Angela, García-Villoria, Judit, Alston, Charlotte L, Taylor, Robert W, Briones, Paz, Ribes, Antonia, Tort, Frederic

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Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders by Yubero, Delia, Montero, Raquel, Martín, Miguel A, Montoya, Julio, Ribes, Antonia, Grazina, Manuela, Trevisson, Eva, Rodriguez-Aguilera, Juan Carlos, Hargreaves, Iain P, Salviati, Leonardo, Navas, Plácido, Artuch, Rafael, Jou, Cristina, Jimenez-Mallebrera, Cecilia, Nascimento, Andres, Pérez-Dueñas, Belén, Ortez, Carlos, Ramos, Federico, Colomer, Jaume, O'Callaghan, Mar, Pineda, Mercè, García-Cazorla, Angels, Espinós, Carmina, Ruiz, Angels, Macaya, Alfons, Marcé-Grau, Anna, Garcia-Villoria, Judit, Arias, Angela, Emperador, Sonia, Ruiz-Pesini, Eduardo, Lopez-Gallardo, Ester, Neergheen, Viruna, Simões, Marta, Diogo, Luisa, Blázquez, Alberto, González-Quintana, Adrián, Delmiro, Aitor, Domínguez-González, Cristina, Arenas, Joaquín, García-Silva, M Teresa, Martín, Elena, Quijada, Pilar, Hernández-Laín, Aurelio, Morán, María, Rivas Infante, Eloy, Ávila Polo, Rainiero, Paradas Lópe, Carmen, Bautista Lorite, Juan, Martínez Fernández, Eva M, Cortés, Ana B, Sánchez-Cuesta, Ana, Cascajo, Maria V, Alcázar, María, Brea-Calvo, Gloria

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