{"id":53253,"date":"2018-03-09T22:40:57","date_gmt":"2018-03-09T22:40:57","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/alteraciones-de-la-sa%c2%adntesis-de-dopamina-y-serotonia-del-metabilismo-de-las-pterinas-y-del-transporte-de-folato-en-pacientes-neuropediatricos\/"},"modified":"2018-03-09T22:40:57","modified_gmt":"2018-03-09T22:40:57","slug":"alteraciones-de-la-sa%c2%adntesis-de-dopamina-y-serotonia-del-metabilismo-de-las-pterinas-y-del-transporte-de-folato-en-pacientes-neuropediatricos","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/procesos-metabolicos\/alteraciones-de-la-sa%c2%adntesis-de-dopamina-y-serotonia-del-metabilismo-de-las-pterinas-y-del-transporte-de-folato-en-pacientes-neuropediatricos\/","title":{"rendered":"Alteraciones de la s\u00edntesis de dopamina y serotonia, del metabilismo de las pterinas y del transporte de folato en pacientes neuropedi\u00e1tricos"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Aida Ormazabal Herrero <\/strong><\/h2>\n<p>En la \u00faltima d\u00e9cada se han descrito diferentes errores cong\u00e9nitos del metabolismo (ecm) de los neurotransmisores (nt), en especial de las v\u00edas dopamin\u00e9rgica y serotonin\u00e9rgica y de las pterinas. Tambi\u00e9n se han descrito defectos en el transporte de glucosa y 5-metiltetrahidrofolato (5-mthf)  a trav\u00e9s dela barrera hematoencefalica, siendo todos estos defectos enfermedades raras, y para cuyo diagn\u00f3stico es necesario el estudio en l\u00edquido cefalorraqu\u00eddeo (lcr). Nuestro objetivo ha sido evaluar los resultados de la aplicaci\u00f3n de un protocolo de an\u00e1lisis de lcr en espa\u00f1a y portugal a lo largo de tres a\u00f1os en pacientes pedi\u00e1tricos con trastornos neurol\u00f3gicos de origen desconocido. se estudiaron 127 individuos control y 283 pacientes con trastornos neurol\u00f3gicos de origen desconocidos. El an\u00e1lisis de nt se realiz\u00f3 mediante hplc con detecci\u00f3n electroqu\u00edmica y el an\u00e1lisis de pterinas y 5-mthf mediante hplc con detecci\u00f3n de fluorescencia. se han diagnosticado 3 deficiencias de tirosina hidroxilasa, 2 casos de diston\u00eda sensible a l-dopa, 14 deficiencias de gtp-ciclohidrolasa dominante, 2 deficiencias del transportador de glucosa y 43 deficiencias de folato en lcr. este estudio ha permitido el diagn\u00f3stico de nuevos pacientes, y lo que es m\u00e1s importante, el establecimiento en todos ellos de un tratamiento farmacol\u00f3gico o nutricional. Las deficiencias de 5-mthf han sido las m\u00e1s frecuentes y se han detectado en diferentes grupos de pacientes.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Alteraciones de la s\u00edntesis de dopamina y serotonia, del metabilismo de las pterinas y del transporte de folato en pacientes neuropedi\u00e1tricos<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Alteraciones de la s\u00edntesis de dopamina y serotonia, del metabilismo de las pterinas y del transporte de folato en pacientes neuropedi\u00e1tricos <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Aida Ormazabal Herrero <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 20\/06\/2006<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<h3>Direcci\u00f3n y tribunal<\/h3>\n<ul>\n<li><strong>Director de la tesis<\/strong>\n<ul>\n<li>Rafael Artuch Iriberri<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: rafael Jimenez gonzalez <\/li>\n<li>francesc Gonz\u00e1lez sastre (vocal)<\/li>\n<li>antonia Ribes rubi\u00f3 (vocal)<\/li>\n<li>  (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Aida Ormazabal Herrero En la \u00faltima d\u00e9cada se han descrito diferentes errores cong\u00e9nitos del metabolismo (ecm) de [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center 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