{"id":13430,"date":"2022-12-27T11:55:50","date_gmt":"2022-12-27T10:55:50","guid":{"rendered":"https:\/\/www.cutislaxa.org\/?p=13430"},"modified":"2023-02-06T09:32:54","modified_gmt":"2023-02-06T08:32:54","slug":"202209-dr-thatjana-gardeitchik_defauts-neurometaboliques-dans-la-cl","status":"publish","type":"post","link":"https:\/\/www.cutislaxa.org\/fr\/202209-dr-thatjana-gardeitchik_defauts-neurometaboliques-dans-la-cl\/","title":{"rendered":"Dr. Thatjana Gardeitchik, MD (Nijmegen, Hollande) : D\u00e9fauts Neurom\u00e9taboliques dans la CL"},"content":{"rendered":"<p>Les d\u00e9fauts mol\u00e9culaires sous-jacents dans les syndromes de la Cutis Laxa peuvent \u00eatre plus ou moins divis\u00e9s en deux groupes,<\/p>\n<p><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-13413 aligncenter\" src=\"https:\/\/www.cutislaxa.org\/wp-content\/uploads\/2023\/01\/IMG_20220915_141241-300x255.jpg\" alt=\"\" width=\"300\" height=\"255\" srcset=\"https:\/\/www.cutislaxa.org\/wp-content\/uploads\/2023\/01\/IMG_20220915_141241-300x255.jpg 300w, https:\/\/www.cutislaxa.org\/wp-content\/uploads\/2023\/01\/IMG_20220915_141241-1030x877.jpg 1030w, https:\/\/www.cutislaxa.org\/wp-content\/uploads\/2023\/01\/IMG_20220915_141241-768x654.jpg 768w, https:\/\/www.cutislaxa.org\/wp-content\/uploads\/2023\/01\/IMG_20220915_141241-1536x1308.jpg 1536w, https:\/\/www.cutislaxa.org\/wp-content\/uploads\/2023\/01\/IMG_20220915_141241-2048x1743.jpg 2048w, https:\/\/www.cutislaxa.org\/wp-content\/uploads\/2023\/01\/IMG_20220915_141241-1500x1277.jpg 1500w, https:\/\/www.cutislaxa.org\/wp-content\/uploads\/2023\/01\/IMG_20220915_141241-705x600.jpg 705w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/p>\n<p>bas\u00e9s sur le type de pathom\u00e9canisme: d\u00e9fauts des g\u00e8nes qui codent un \u00e9l\u00e9ment\u2013ECM \u00ab\u00a0Structurel\u00a0\u00bb ou d\u00e9fauts dans les g\u00e8nes o\u00f9 les mutations causent des erreurs inn\u00e9es du m\u00e9tabolisme (IEM) pr\u00e9sents dans la Cutis Laxa.<\/p>\n<p style=\"text-align: center;\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone wp-image-13416\" src=\"https:\/\/www.cutislaxa.org\/wp-content\/uploads\/2023\/01\/IMG_20220915_141205-300x251.jpg\" alt=\"\" width=\"215\" height=\"180\" srcset=\"https:\/\/www.cutislaxa.org\/wp-content\/uploads\/2023\/01\/IMG_20220915_141205-300x251.jpg 300w, https:\/\/www.cutislaxa.org\/wp-content\/uploads\/2023\/01\/IMG_20220915_141205-1030x862.jpg 1030w, https:\/\/www.cutislaxa.org\/wp-content\/uploads\/2023\/01\/IMG_20220915_141205-768x642.jpg 768w, https:\/\/www.cutislaxa.org\/wp-content\/uploads\/2023\/01\/IMG_20220915_141205-1536x1285.jpg 1536w, https:\/\/www.cutislaxa.org\/wp-content\/uploads\/2023\/01\/IMG_20220915_141205-2048x1713.jpg 2048w, https:\/\/www.cutislaxa.org\/wp-content\/uploads\/2023\/01\/IMG_20220915_141205-1500x1255.jpg 1500w, https:\/\/www.cutislaxa.org\/wp-content\/uploads\/2023\/01\/IMG_20220915_141205-705x590.jpg 705w\" sizes=\"auto, (max-width: 215px) 100vw, 215px\" \/> <img loading=\"lazy\" decoding=\"async\" class=\"alignnone wp-image-13419\" src=\"https:\/\/www.cutislaxa.org\/wp-content\/uploads\/2023\/01\/IMG_20220915_141423-300x229.jpg\" alt=\"\" width=\"236\" height=\"180\" srcset=\"https:\/\/www.cutislaxa.org\/wp-content\/uploads\/2023\/01\/IMG_20220915_141423-300x229.jpg 300w, https:\/\/www.cutislaxa.org\/wp-content\/uploads\/2023\/01\/IMG_20220915_141423-1030x786.jpg 1030w, https:\/\/www.cutislaxa.org\/wp-content\/uploads\/2023\/01\/IMG_20220915_141423-768x586.jpg 768w, https:\/\/www.cutislaxa.org\/wp-content\/uploads\/2023\/01\/IMG_20220915_141423-1536x1172.jpg 1536w, https:\/\/www.cutislaxa.org\/wp-content\/uploads\/2023\/01\/IMG_20220915_141423-2048x1563.jpg 2048w, https:\/\/www.cutislaxa.org\/wp-content\/uploads\/2023\/01\/IMG_20220915_141423-1500x1144.jpg 1500w, https:\/\/www.cutislaxa.org\/wp-content\/uploads\/2023\/01\/IMG_20220915_141423-705x538.jpg 705w\" sizes=\"auto, (max-width: 236px) 100vw, 236px\" \/><\/p>\n<p>.\u00a0 La fa\u00e7on exacte dont les divergences mol\u00e9culaires s\u2019expriment en anomalies de l\u2019\u00e9lastine reste un myst\u00e8re.<\/p>\n<p><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-13422 aligncenter\" src=\"https:\/\/www.cutislaxa.org\/wp-content\/uploads\/2023\/01\/IMG_20220915_142433-300x158.jpg\" alt=\"\" width=\"300\" height=\"158\" srcset=\"https:\/\/www.cutislaxa.org\/wp-content\/uploads\/2023\/01\/IMG_20220915_142433-300x158.jpg 300w, https:\/\/www.cutislaxa.org\/wp-content\/uploads\/2023\/01\/IMG_20220915_142433-1030x544.jpg 1030w, https:\/\/www.cutislaxa.org\/wp-content\/uploads\/2023\/01\/IMG_20220915_142433-768x405.jpg 768w, https:\/\/www.cutislaxa.org\/wp-content\/uploads\/2023\/01\/IMG_20220915_142433-1536x811.jpg 1536w, https:\/\/www.cutislaxa.org\/wp-content\/uploads\/2023\/01\/IMG_20220915_142433-2048x1081.jpg 2048w, https:\/\/www.cutislaxa.org\/wp-content\/uploads\/2023\/01\/IMG_20220915_142433-1500x792.jpg 1500w, https:\/\/www.cutislaxa.org\/wp-content\/uploads\/2023\/01\/IMG_20220915_142433-710x375.jpg 710w, https:\/\/www.cutislaxa.org\/wp-content\/uploads\/2023\/01\/IMG_20220915_142433-705x372.jpg 705w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Les d\u00e9fauts mol\u00e9culaires sous-jacents dans les syndromes de la Cutis Laxa peuvent \u00eatre plus ou moins divis\u00e9s en deux groupes, bas\u00e9s sur le type de pathom\u00e9canisme: d\u00e9fauts des g\u00e8nes qui codent un \u00e9l\u00e9ment\u2013ECM \u00ab\u00a0Structurel\u00a0\u00bb ou d\u00e9fauts dans les g\u00e8nes o\u00f9 les mutations causent des erreurs inn\u00e9es du m\u00e9tabolisme (IEM) pr\u00e9sents dans la Cutis Laxa. .\u00a0 [&hellip;]<\/p>\n","protected":false},"author":2,"featured_media":13425,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[59,67,61,60,66,64],"tags":[],"class_list":["post-13430","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-number-mutations-fr","category-photos-fr","category-quoi-de-neuf","category-recherche","category-recherche-medecine-genetique","category-rencontres-evenements-et-manifestations"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v22.0 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Dr. Thatjana Gardeitchik, MD (Nijmegen, Hollande) : D\u00e9fauts Neurom\u00e9taboliques dans la CL - CUTIS LAXA INTERNATIONALE<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" 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