Search Results - "Garcia Campos, Oscar"

A Novel AIFM1‐Related Disorder Phenotype Treated with Deep Brain Stimulation by Pijuan, Jordi, Sevrioukova, Irina F., García‐Campos, Óscar, Hernaez, Mar, Gort, Laura, Gómez‐Chiari, Marta, Jou, Cristina, Candela‐Cantó, Santiago, Rumiá, Jordi, Artuch, Rafael, Palau, Francesc, Hoenicka, Janet, Ortigoza‐Escobar, Juan Dario

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Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study by Stanescu, Sinziana, Correcher Medina, Patricia, del Castillo, Francisco J, Alonso Luengo, Olga, Arto Millan, Luis Maria, Belanger Quintana, Amaya, Camprodon Gomez, Maria, Diez Langhetée, Lydia, Garcia Campos, Oscar, Matas Garcia, Ana, Perez-Moreno, Jimena, Rubio Gribble, Barbara, Visa-Reñé, Nuria, Giraldo-Castellano, Pilar, O’Callaghan Gordo, Mar

“…This was a retrospective, multicenter study that aimed to report the characteristics of type 3 Gaucher disease (GD3) patients in Spain, including the genotype,…”
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COVID-19 in children with neuromuscular disorders by Natera-de Benito, Daniel, Aguilera-Albesa, Sergio, Costa-Comellas, Laura, García-Romero, Mar, Miranda-Herrero, María Concepción, Rúbies Olives, Júlia, García-Campos, Óscar, Martínez del Val, Elena, Martinez Garcia, Maria Josefa, Medina Martínez, Inmaculada, Cancho-Candela, Ramón, Fernandez-Garcia, Miguel A., Pascual-Pascual, Samuel Ignacio, Gómez-Andrés, David, Nascimento, Andres

“…Objective Children with neuromuscular disorders have been assumed to be a particularly vulnerable population since the beginning of COVID-19. Although this is…”
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Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program by Navarrete, Rosa, Leal, Fátima, Vega, Ana I, Morais-López, Ana, Garcia-Silva, María Teresa, Martín-Hernández, Elena, Quijada-Fraile, Pilar, Bergua, Ana, Vives, Inmaculada, García-Jiménez, Inmaculada, Yahyaoui, Raquel, Pedrón-Giner, Consuelo, Belanger-Quintana, Amaya, Stanescu, Sinziana, Cañedo, Elvira, García-Campos, Oscar, Bueno-Delgado, María, Delgado-Pecellín, Carmen, Vitoria, Isidro, Rausell, María Dolores, Balmaseda, Elena, Couce, Mari Luz, Desviat, Lourdes R, Merinero, Begoña, Rodríguez-Pombo, Pilar, Ugarte, Magdalena, Pérez-Cerdá, Celia, Pérez, Belén

“…The present work describes the value of genetic analysis as a confirmatory measure following the detection of suspected inborn errors of metabolism in the…”
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Uniparental disomy as a cause of spinal muscular atrophy and progressive myoclonic epilepsy: Phenotypic homogeneity due to the homozygous c.125C>T mutation in ASAH1 by Giráldez, Beatriz G, Guerrero-López, Rosa, Ortega-Moreno, Laura, Verdú, Alfonso, Carrascosa-Romero, M. Carmen, García-Campos, Óscar, García-Muñozguren, Susana, Pardal-Fernández, José Manuel, Serratosa, José M

“…Highlights • We report a new case of spinal muscular atrophy and progressive myoclonic epilepsy harboring a homozygous ASAH1 c.125C>T mutation due to paternal…”
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Descriptive study of patients with Gaucher disease type 3 in Spain and clinical response to different therapies by Giraldo, Pilar, Stanescu, Sinziana, Medina, Patricia Correcher, Gómez, Maria Camprodon, del Castillo, Francisco J., Arto-Millan, Luis, Belanger, Amaya, Langhetee, Lydia Diez, Campos, Oscar Garcia, Perez-Moreno, Jimena, Rubio, Barbara, Visa-Reñé, Nuria

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Acute Striatal Necrosis in Hemiplegic Migraine With de Novo CACNA1A Mutation by Carreño, Oriel, García-Silva, María Teresa, García-Campos, Óscar, Martínez-de Aragón, Ana, Cormand, Bru, Macaya, Alfons

“…We report the case of a 9‐year‐old girl with early‐onset developmental delay, chronic ataxia and prolonged hemiplegic migraine episodes bringing about…”
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Genetic diagnosis of basal ganglia disease in childhood by Baide‐Mairena, Heidy, Marti‐Sánchez, Laura, Marcé‐Grau, Anna, Cazurro‐Gutiérrez, Ana, Sanchez‐Montanez, Angel, Delgado, Ignacio, Moreno‐Galdó, Antonio, Macaya‐Ruiz, Alfons, García‐Arumí, Elena, Pérez‐Dueñas, Belén

“…AIM To correlate clinical, radiological, and biochemical features with genetic findings in children with bilateral basal ganglia lesions of unknown aetiology,…”
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Anillo Vascular: arco aórtico derecho con arteria subclavia aberrante izquierda by García Campos, Óscar, Domínguez García, Olga, Íñigo Martín, Gema

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Anillo Vascular: arco aórtico derecho con arteria subclavia aberrante izquierda by Gema Íñigo Martín, Olga Domínguez García, Óscar García Campos

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Acute Striatal Necrosis in Hemiplegic Migraine With de Novo CACNA1A Mutation: November/December 2011 by Carreño, Oriel, García-Silva, María Teresa, García-Campos, Óscar, Martínez-de Aragón, Ana, Cormand, Bru, Macaya, Alfons

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