{"id":99289,"date":"2018-03-11T10:20:22","date_gmt":"2018-03-11T10:20:22","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/diagnostico-cla%c2%adnico-bioqua%c2%admico-y-molecular-en-pacientes-con-defecto-del-transportador-de-creatina-opciones-terapeuticas\/"},"modified":"2018-03-11T10:20:22","modified_gmt":"2018-03-11T10:20:22","slug":"diagnostico-cla%c2%adnico-bioqua%c2%admico-y-molecular-en-pacientes-con-defecto-del-transportador-de-creatina-opciones-terapeuticas","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/pediatria\/diagnostico-cla%c2%adnico-bioqua%c2%admico-y-molecular-en-pacientes-con-defecto-del-transportador-de-creatina-opciones-terapeuticas\/","title":{"rendered":"Diagn\u00f3stico cl\u00ednico, bioqu\u00edmico y molecular en pacientes con  defecto  del transportador  de creatina. opciones terap\u00e9uticas"},"content":{"rendered":"<h2>Tesis doctoral de <strong> M. Carmen Fons Estupi\u00f1\u00e1 <\/strong><\/h2>\n<p>Los defectos de creatina cerebral (dcc) constituyen un grupo de enfermedades neurometab\u00f3licas hereditarias, descritas recientemente y hasta ahora infradiagnosticadas, tanto por la falta de procedimientos adecuados para su diagn\u00f3stico, como por el amplio e inespec\u00edfico espectro de s\u00edntomas con que se manifiestan. se ha reportado que el defecto de transportador de creatina (crtr) constituye una de las causas m\u00e1s frecuentes de retraso mental ligado al cromosoma x. Por ello, uno de nuestros objetivos ha sido determinar la preValencia en nuestro medio del defecto de crtr, mediante el cribaje de metabolitos de la cr en orina en una poblaci\u00f3n de pacientes afectos de retraso mental y\/o autismo. Adem\u00e1s se realizaron estudios bioqu\u00edmicos para evaluar qu\u00e9 factores diet\u00e9ticos pueden influir en la alteraci\u00f3n de los resultados bioqu\u00edmicos en orina y as\u00ed dificultar el diagn\u00f3stico bioqu\u00edmico de esta entidad. posteriormente con el objetivo de incrementar el conocimiento del fenotipo cl\u00ednico en pacientes con defecto de crtr, evaluamos espec\u00edficamente las caracter\u00edsticas de la epilepsia, s\u00edntoma frecuente y que asocia complicaciones graves. Hemos estudiado los mecanismos fisiopatog\u00e9nicos de la epilepsia y la eficacia de los respectivos tratamientos antiepil\u00e9pticos adem\u00e1s de evaluar la correlaci\u00f3n fenotipo-genotipo respecto a la gravedad de la epilepsia. dado que el defecto de crtr, es una enfermedad que no dispone de tratamiento efectivo en la actualidad, gran parte de nuestro trabajo se ha basado en ensayar diferentes estrategias terap\u00e9uticas en pacientes con defecto de crtr, y evaluar la respuesta a estos tratamientos.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Diagn\u00f3stico cl\u00ednico, bioqu\u00edmico y molecular en pacientes con  defecto  del transportador  de creatina. opciones terap\u00e9uticas<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Diagn\u00f3stico cl\u00ednico, bioqu\u00edmico y molecular en pacientes con  defecto  del transportador  de creatina. opciones terap\u00e9uticas <\/li>\n<li><strong>Autor:<\/strong>\u00a0 M. Carmen Fons Estupi\u00f1\u00e1 <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 19\/02\/2010<\/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>Jaume Campistol Plana<\/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>  (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 M. Carmen Fons Estupi\u00f1\u00e1 Los defectos de creatina cerebral (dcc) constituyen un grupo de enfermedades neurometab\u00f3licas hereditarias, [&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 center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"footnotes":""},"categories":[951,1880,161],"tags":[13646,29258,202694,1201],"class_list":["post-99289","post","type-post","status-publish","format-standard","hentry","category-barcelona","category-neurologia","category-pediatria","tag-francesc-gonzalez-sastre","tag-jaume-campistol-plana","tag-m-carmen-fons-estupina","tag-rafael-jimenez-gonzalez"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/99289","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/comments?post=99289"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/99289\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=99289"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=99289"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=99289"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}