Search Results - "Castejón Ponce, E."
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1
Meningoencefalitis por virus Epstein-Barr en niño sano
Published in Anales de pediatría (Barcelona, Spain : 2003) (01-06-2010)Get full text
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Diagnóstico de la mutación responsable de porfiria aguda intermitente en un recién nacido
Published in Anales de pediatría (Barcelona, Spain : 2003) (01-07-2011)Get full text
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Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report
Published in Archivos de la Sociedad Española de Oftalmología (English ed.) (01-05-2016)“…Abstract Clinical case A five-year-old patient, with a diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, was referred for an ophthalmological…”
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4
Déficit de 3-hidroxiacil-CoA-deshidrogenasa de cadena larga: a propósito de un caso
Published in Archivos de la Sociedad Española de Oftalmología (01-05-2016)“…Resumen Caso clínico Paciente de 5 años de edad remitido para valoración oftalmológica con el diagnóstico de déficit de 3-hidroxiacil-CoA deshidrogenasa de…”
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5
Epstein-Barr meningo-encephalitis in a healthy boy
Published in Anales de pediatría (Barcelona, Spain : 2003) (01-06-2010)Get full text
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6
Diagnosis of the mutation responsible for acute intermittent porphyria in a newborn
Published in Anales de pediatría (Barcelona, Spain : 2003) (01-07-2011)Get full text
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7
Epilepsy and inborn errors of metabolism
Published in Revista de neurologiá (29-09-2024)“…Epilepsy is a common manifestation in inborn errors of metabolism, with varying degrees of severity and response to treatment. To determine its incidence and…”
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8
Smith Lemli Opitz Syndrome type II of neonatal diagnosis and review of the most interesting clinical features
Published in Revista de neurologiá (16-05-2002)“…Smith Lemli Opitz syndrome is an autosomal recessive metabolic disease, two forms can be differentiated: type I and type II. We present the clinical case of a…”
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9
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report
Published in Archivos de la Sociedad Española de Oftalmología (01-05-2016)“…A five-year-old patient, with a diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, was referred for an ophthalmological examination. He had a…”
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10
Síndrome de SmithLemliOpitz tipo II de diagnóstico neonatal y revisión de sus conocimientos de mayor interés
Published in Revista de neurologiá (16-05-2002)Get full text
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11
Excess weight in patients with cystic fibrosis: is it always beneficial?
Published in Nutrición hospitalaria : organo oficial de la Sociedad Española de Nutrición Parenteral y Enteral (05-06-2017)“…The primary objective of this study was to find out the prevalence of overweight and obese status, as well as their association to pulmonary function, total…”
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12
Increasing diagnosis of eosinophilic esophagitis in Spain
Published in Anales de pediatría (Barcelona, Spain : 2003) (01-04-2005)“…Eosinophilic esophagitis is a chronic inflammation of the esophagus characterized by marked eosinophilic infiltration. It is frequently associated with other…”
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13
Hiperoxaluria primaria
Published in Anales de pediatría (Barcelona, Spain : 2003) (2004)Get full text
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14
Síndrome de megavejiga-microcolon-hipoperistaltismo intestinal. A propósito de un caso de supervivencia prolongada
Published in Anales de pediatría (Barcelona, Spain : 2003) (01-04-2004)Get full text
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15
Megacystis-microcolon-intestinal hypoperistalsis syndrome: a case of prolonged survival
Published in Anales de pediatría (Barcelona, Spain : 2003) (01-04-2004)“…Megacystis-microcolon-intestinal hypoperistalsis syndrome is a multisystemic disorder in which impaired intestinal motor activity causes recurrent symptoms of…”
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16
Aumento del diagnóstico de esofagitis eosinofílica en nuestro medio
Published in Anales de pediatría (Barcelona, Spain : 2003) (2005)“…La esofagitis eosinofílica es una inflamación crónica del esófago con alto grado de infiltración eosinófila. Relacionada con otros procesos alérgicos, su…”
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17
Primary hyperoxaluria
Published in Anales de pediatría (Barcelona, Spain : 2003) (01-04-2004)Get full text
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18
Síndrome de megavejiga-microcolonhipoperistaltismo intestinal. A propósito de un caso de supervivencia prolongada
Published in Anales de pediatría (Barcelona, Spain : 2003) (2004)“…El síndrome de megavejiga-microcolon-hipoperistaltismo intestinal (MMIHS) es un trastorno multisistémico con alteración de la motilidad intestinal que origina…”
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19
Early infantile epileptic encephalopathy due to ITPA mutation
Published in Revista de neurologia (01-09-2020)Get full text
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Epstein-Barr meningo-encephalitis in a healthy boy
Published in Anales de pediatria (Barcelona, Spain : 2003) (01-06-2010)Get full text
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