Search Results - "López Laso, E."
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Pseudotumor cerebri in the paediatric population: clinical features, treatment and prognosis
Published in Neurología (Barcelona, English ed. ) (01-03-2024)“…Pseudotumor cerebri (PC) in prepubertal patients displays certain characteristics that differentiate it from its presentation at the postpubertal stage. The…”
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Classic and late-onset neurological disease in two siblings with glutaryl-CoA dehydrogenase deficiency
Published in Journal of inherited metabolic disease (01-11-2007)“…Late-onset neurological disease has rarely been reported in patients with glutaryl-CoA dehydrogenase (GCDH) deficiency. We present two siblings with GCDH…”
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Pseudotumor cerebri in the paediatric population: clinical features, treatment and prognosis
Published in Neurología (Barcelona, English ed. ) (31-05-2021)“…Pseudotumor cerebri (PC) in prepubertal patients displays certain characteristics that differentiate it from its presentation at the postpubertal stage. The…”
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Síndrome de pseudotumor cerebri en la población pediátrica: características clínicas, tratamiento y pronóstico
Published in Neurología (Barcelona, Spain) (01-03-2024)“…El síndrome de pseudotumor cerebri (SPTC) en pacientes prepuberales presenta características que lo diferencian respecto a su presentación en la etapa…”
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B cell non-Hodgkin’s lymphoma in a girl with the DiGeorge anomaly
Published in Archives of disease in childhood (01-11-1999)“…The DiGeorge anomaly (DGA) is occasionally associated with cellular immunodeficiency. We report a female infant diagnosed with complete DGA, who developed…”
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Encefalopatía aguda necrosante familiar o recurrente desencadenada por infecciones
Published in Anales de pediatría (Barcelona, Spain : 2003) (2009)“…Resumen La encefalopatía aguda necrosante (EAN) es una encefalopatía rápidamente progresiva que se presenta en niños por lo demás normales asociada a…”
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Neurological complications in patients receiving solid organ transplants
Published in Anales de pediatría (Barcelona, Spain : 2003) (01-03-2013)“…Neurological complications (NC) are a significant cause of morbidity and mortality in paediatric patients receiving solid organ transplants. Our aim was to…”
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Infection-triggered familial or recurrent acute necrotizing encephalopathy
Published in Anales de pediatría (Barcelona, Spain : 2003) (01-09-2009)“…Acute necrotizing encephalopathy (ANE) presents in children after common viral infections. Most cases of ANE are non-familial and non-recurrent and have been…”
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Complicaciones neurológicas en trasplantados de órgano sólido
Published in Anales de pediatría (Barcelona, Spain : 2003) (01-03-2013)“…Resumen Introducción Las complicaciones neurológicas (CN) suponen una parte importante de la morbimortalidad del postoperatorio del trasplante pediátrico de…”
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Perforación gástrica en paciente con neuropatía motora
Published in Anales de pediatría (Barcelona, Spain : 2003) (01-08-2011)Get full text
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Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism
Published in PloS one (31-05-2016)“…Next-generation sequencing (NGS) technology has allowed the promotion of genetic diagnosis and are becoming increasingly inexpensive and faster. To evaluate…”
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Acute cerebrovascular accident associated with drepanocytosis complicated by pneumococcal meningitis in two children
Published in Revista de neurologiá (16-06-2000)“…Between 6% and 17% of the patients with drepanocytosis will have an acute cerebrovascular accident (ACVA). Precipitating factors have been described including…”
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Alfa-manosidosis tipo II
Published in Anales de pediatría (Barcelona, Spain : 2003) (01-03-2008)Get full text
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Contenido de hemoglobina reticulocitaria para el diagnóstico de la ferropenia
Published in Anales de pediatría (Barcelona, Spain : 2003) (2009)“…Resumen Introducción El reconocimiento del déficit de hierro es crucial para administrar un tratamiento precoz que prevenga las complicaciones multisistémicas…”
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Revisión de los parámetros hematológicos y bioquímicos para identificar la ferropenia
Published in Anales de pediatría (Barcelona, Spain : 2003) (2009)“…Resumen Introducción La ferropenia es una de las deficiencias nutricionales más frecuentes en la primera infancia. En las últimas décadas se han incorporado…”
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Dysembryoplastic neuroepithelial tumors in children
Published in Revista de neurologiá (01-07-2007)Get full text
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Botulismo del lactante
Published in Anales de pediatría (Barcelona, Spain : 2003) (01-05-2008)“…Comunicamos la detección de botulismo en un lactante de 40 días que presentó parálisis flácida descendente con insuficiencia respiratoria grave que requirió…”
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G.P.238: Phenotypic spectrum of three patients affected by TRPV4 mutations
Published in Neuromuscular disorders : NMD (01-10-2014)“…Mutations in the TRPV4 (transient receptor potential vanilloid 4) gene, encoding a non-selective cation channel, causes congenital distal spinal muscular…”
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Osteosarcoma metástasis cerebral
Published in Anales de pediatría (Barcelona, Spain : 2003) (2002)“…La introducción del tratamiento multimodal ha supuesto una prolongación de la supervivencia, tanto de los pacientes con osteosarcoma globalmente como del…”
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