{"id":24596,"date":"2003-11-07T00:00:00","date_gmt":"2003-11-07T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-cla%c2%adnico-patologico-y-genetico-de-las-enfermedades-por-deposito-de-glucogeno-que-afectan-exclusiva-o-predominantemente-al-musculo-esqueletico-humano\/"},"modified":"2003-11-07T00:00:00","modified_gmt":"2003-11-07T00:00:00","slug":"estudio-cla%c2%adnico-patologico-y-genetico-de-las-enfermedades-por-deposito-de-glucogeno-que-afectan-exclusiva-o-predominantemente-al-musculo-esqueletico-humano","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/estudio-cla%c2%adnico-patologico-y-genetico-de-las-enfermedades-por-deposito-de-glucogeno-que-afectan-exclusiva-o-predominantemente-al-musculo-esqueletico-humano\/","title":{"rendered":"Estudio cl\u00ednico-patol\u00f3gico y gen\u00e9tico de las enfermedades por dep\u00f3sito de gluc\u00f3geno que afectan exclusiva o predominantemente al m\u00fasculo esquel\u00e9tico humano"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Roberto Fern\u00e1ndez Hojas <\/strong><\/h2>\n<p>Las glucogenosis musculares, constituyen un amplio grupo de enfermedades, poco frecuentes, gen\u00e9ticamente determinadas y causadas por el d\u00e9ficit de determinadas enzimas que intervienen en el metabolismo del gluc\u00f3geno. actualmente se conocen m\u00e1s de diez tipos diferentes de glucogenosis musculares, cuya herencia en su mayor\u00eda es ar. Las mutaciones en los genes que codifican estas enzimas, originan d\u00e9ficits o ausencia total de expresi\u00f3n enzim\u00e1tica, originando dep\u00f3sitos de gluc\u00f3geno en diversos tejidos, dependiendo del tipo de glucogenosis. En esta tesis doctoral se han estudiado los apsectos cl\u00ednico-patol\u00f3gicos y gen\u00e9ticos de la glucogenosis ii y v. La glucogenosis ii o d\u00e9ficit de maltasa \u00e1cida, de herencia ar , presenta tres fenotipos cl\u00ednicos, diferenciados por la edad de inicio, progresi\u00f3n de la enfermedad y edad de muerte, siendo \u00e9sta la \u00fanica glucogenosis de dep\u00f3sito intralisosomal. la forma infantil o enfermedad y edad de muerte, siendo \u00e9sta la \u00fanica glucogenosis de dep\u00f3sitos intralisosomal. La forma infantil o enfermedad de pompe, es multisist\u00e9mica, los tejidos m\u00e1s afectados son el micoardio, m\u00fasculo esquel\u00e9tico, h\u00edgado y snc. La glucogenosis v, d\u00e9ficit de miofosforilasa o enfermedad de mcardle, de herencia ar, es una miopat\u00eda de inicio en la adolescencia, cuyo principal s\u00edntoma cl\u00ednico es la intolerancia al ejercicio. El d\u00e9ficit enzim\u00e1tico cuasante de esta enfermedad, origina dep\u00f3sitos de gluc\u00f3geno libre de estructura normal que afectan \u00fanica y exclusivamente a las fibras del m\u00fasculo esquel\u00e9tico.  se han estudiado tres pacientes con la cl\u00e1sica forma infantil de la glucogenosis ii o enfermedad de pompe, dos fetos, en los que se realiz\u00f3 diagn\u00f3stico prenatal de esta enfermedad a trav\u00e9s de biopsia de vellosidades cori\u00f3nicas, a nivel ultraestructural, bioqu\u00edmico y gen\u00e9tico, un paciente con la forma del adulto y 30 casos de enfermedad de mcardle. Se realiz\u00f3 un estudio cl\u00ednico y neurofisiol\u00f3g<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio cl\u00ednico-patol\u00f3gico y gen\u00e9tico de las enfermedades por dep\u00f3sito de gluc\u00f3geno que afectan exclusiva o predominantemente al m\u00fasculo esquel\u00e9tico humano<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio cl\u00ednico-patol\u00f3gico y gen\u00e9tico de las enfermedades por dep\u00f3sito de gluc\u00f3geno que afectan exclusiva o predominantemente al m\u00fasculo esquel\u00e9tico humano <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Roberto Fern\u00e1ndez Hojas <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Santiago de compostela<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 11\/07\/2003<\/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>balbuena Navarro Fern\u00e1ndez<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: angel Mar\u00eda Carracedo alvarez <\/li>\n<li>Carlos Cervera radigales (vocal)<\/li>\n<li>Jos\u00e9 ramon Ricoy campo (vocal)<\/li>\n<li>joaquin Arenas barbero (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Roberto Fern\u00e1ndez Hojas Las glucogenosis musculares, constituyen un amplio grupo de enfermedades, poco frecuentes, gen\u00e9ticamente determinadas y [&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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