Encephalopathy, kidney failure and retinopathy. CoQ10 deficiency due to COQ8B mutation by Victor Adam Lancet, Yolanda Romero Salas, María Luisa Justa Roldán, María Concepción García Jiménez, Gema Ariceta Iraola

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Deficiencia de lipasa ácida lisosomal: una causa poco reconocida de dislipemia y disfunción hepática by Marta Marín Andrés, Ignacio Ros Arnal, Jorge Javier Cebolla Sanz, Raquel Pérez Delgado, María Concepción García Jiménez

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Lysosomal acid lipase deficiency: A rarely recognised cause of dyslipidaemia and liver dysfunction by Marta Marín Andrés, Ignacio Ros Arnal, Jorge Javier Cebolla Sanz, Raquel Pérez Delgado, María Concepción García Jiménez

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Development and characterization of cell models harbouring mtDNA deletions for in vitro study of Pearson syndrome by Carmen Hernández-Ainsa, Ester López-Gallardo, María Concepción García-Jiménez, Francisco José Climent-Alcalá, Carmen Rodríguez-Vigil, Marta García Fernández de Villalta, Rafael Artuch, Julio Montoya, Eduardo Ruiz-Pesini, Sonia Emperador

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Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain by Elena Martín-Hernández, Pilar Quijada-Fraile, Patricia Correcher, Silvia Meavilla, Paula Sánchez-Pintos, Javier de las Heras Montero, Javier Blasco-Alonso, Lucy Dougherty, Ana Marquez, Luis Peña-Quintana, Elvira Cañedo, María Concepción García-Jimenez, Pedro Juan Moreno Lozano, Mercedes Murray Hurtado, María Camprodon Gómez, Delia Barrio-Carreras, Mariela de los Santos, Mireia del Toro, María L. Couce, Isidro Vitoria Miñana, Montserrat Morales Conejo, Marcello Bellusci

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