Distal phalangeal erythema in an infant with biallelic PDSS1 mutations: Expanding the phenotype of primary Coenzyme Q10 deficiency by Marcello Bellusci, Maria Teresa García‐Silva, Ana Martínez de Aragón, Miguel Angel Martín

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Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients by Amaya Bélanger-Quintana, Francisco Arrieta Blanco, Delia Barrio-Carreras, Ana Bergua Martínez, Elvira Cañedo Villarroya, María Teresa García-Silva, Rosa Lama More, Elena Martín-Hernández, Ana Moráis López, Montserrat Morales-Conejo, Consuelo Pedrón-Giner, Pilar Quijada-Fraile, Sinziana Stanescu, Mercedes Martínez-Pardo Casanova

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Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience by Pilar Quijada-Fraile, Elena Arranz Canales, Elena Martín-Hernández, María Juliana Ballesta-Martínez, Encarna Guillén-Navarro, Guillem Pintos-Morell, Marc Moltó-Abad, David Moreno-Martínez, Salvador García Morillo, Javier Blasco-Alonso, María Luz Couce, Ricardo Gil Sánchez, Elisenda Cortès-Saladelafont, Mónica A. López Rodríguez, María Teresa García-Silva, Montserrat Morales Conejo

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Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region by Álvaro Martín‐Rivada, Laura Palomino Pérez, Pedro Ruiz‐Sala, Rosa Navarrete, Ana Cambra Conejero, Pilar Quijada Fraile, Ana Moráis López, Amaya Belanger‐Quintana, Elena Martín‐Hernández, Marcello Bellusci, Elvira Cañedo Villaroya, Silvia Chumillas Calzada, María Teresa García Silva, Ana Bergua Martínez, Sinziana Stanescu, Mercedes Martínez‐Pardo Casanova, Miguel L. F. Ruano, Magdalena Ugarte, Belén Pérez, Consuelo Pedrón‐Giner

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