Jesús Eirís-Puñal
University of Santiago de Compostela
66 Papers
404 Citations
Jesús Eirís-Puñal is an academic researcher from University of Santiago de Compostela. The author has contributed to research in topics: Mitochondrial respiratory chain & Medicine. The author has an hindex of 15, co-authored 65 publications.
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Papers
Epidemiology of pediatric mitochondrial respiratory chain disorders in northwest Spain.
Manuel Castro-Gago,Blanco-Barca Mo,Yolanda Campos-González,Joaquín Arenas-Barbero,Pintos-Martínez E,Jesús Eirís-Puñal +5 more
TL;DR: This study reports incidence and prevalence estimates, and summarizes the clinical, biochemical, histologic, and genetic characteristics of 51 patients age 0-16 years that manifested phenotypic syndromes that have not been previously reported in association with mitochondrial respiratory chain diseases.
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Serum Carnitine Levels in Epileptic Children Before and During Treatment With Valproic Acid, Carbamazepine, and Phenobarbital
Manuel Castro-Gago,Jesús Eirís-Puñal,M I Novo-Rodríguez,José Couceiro,Félix Camiña,Santiago Rodríguez-Segade +5 more
TL;DR: Serum levels of free, acyl, and total carnitine were determined in 32 patients with seizures, before and after 3, 6, and 12 months of treatment with valproic acid, carbamazepine, or phenobarbital, and these findings suggest a need to monitor serum carnite levels in children treated with any of these drugs.
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Autosomal recessive hydrocephalus with aqueductal stenosis
TL;DR: The case histories of three sisters with congenital hydrocephalus associated with stenosis of the cerebral aqueduct are reported and it is considered that these three cases are of the rare autosomal form of hereditary Hydrocephalus.
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Hipomelanosis de Ito. Un síndrome neurocutáneo heterogéneo y posiblemente infradiagnosticado
Carmen Gómez-Lado,Jesús Eirís-Puñal,O Blanco-Barca,E del Río-Latorre,V Fernández-Redondo,M Castro-Gago +5 more
TL;DR: Dada the ausencia de un marcador biologico that identifique the HI y the existencia of formas clinicas con escasa expresividad cutanea, que en ocasiones pasan desapercibidas o no se consideran suficientemente relevantes for establecer el diagnostico, es posible that esta entidad sea mas frecuente of lo que asumimos y that su prevalencia
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