{"id":928,"date":"2026-06-29T10:18:28","date_gmt":"2026-06-29T10:18:28","guid":{"rendered":"https:\/\/cblc.it\/revision-of-guidelines-on-remethylation-defects\/"},"modified":"2026-07-28T12:36:21","modified_gmt":"2026-07-28T12:36:21","slug":"revision-of-guidelines-on-remethylation-defects","status":"publish","type":"post","link":"https:\/\/cblc.it\/en\/revision-of-guidelines-on-remethylation-defects\/","title":{"rendered":"Revision of guidelines on remethylation defects"},"content":{"rendered":"\n<p class=\"wp-block-paragraph\">After a long and intense effort lasting <strong>more than two years<\/strong> and involving leading experts<br\/>and specialists in the field of metabolic diseases, the first <strong>revision of the global guidelines<\/strong> for the diagnosis and treatment of remethylation disorders was published in June 2026, <strong>among which cblC is the most numerically represented form.<\/strong><\/p>\n\n<p class=\"wp-block-paragraph\"><br\/>Furthermore, it represents <strong>the first case in the world <\/strong>in which a patient association<br\/>is not only consulted, but directly involved in drafting the guidelines.<br\/>Specifically, our association was directly represented through the<br\/>participation of its president, who <strong>is among the authors of the guidelines.<\/strong> <\/p>\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"463\" src=\"https:\/\/cblc.it\/wp-content\/uploads\/2026\/06\/guidelines-1024x463.jpg\" alt=\"\" class=\"wp-image-793\" srcset=\"https:\/\/cblc.it\/wp-content\/uploads\/2026\/06\/guidelines-1024x463.jpg 1024w, https:\/\/cblc.it\/wp-content\/uploads\/2026\/06\/guidelines-300x136.jpg 300w, https:\/\/cblc.it\/wp-content\/uploads\/2026\/06\/guidelines-768x347.jpg 768w, https:\/\/cblc.it\/wp-content\/uploads\/2026\/06\/guidelines.jpg 1523w\" sizes=\"auto, (max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n<p class=\"wp-block-paragraph\">During the proceedings, the president participated in various meetings, both remotely and in person,<br\/>contributing to the drafting of the guidelines and bringing to the attention of the<br\/>scientific community not only the clinical aspects, but also the needs of patients and<br\/>caregivers.<br\/><strong>This collaboration between the association and the scientific community<\/strong> represents a<br\/>significant example of how dialogue between the two worlds involved in the management of rare diseases<br\/>can contribute to a better understanding of patient needs.<\/p>\n\n<p class=\"wp-block-paragraph\"><br\/>Journal of Inherited Metabolic Disease, 2026; 49:e70177<br\/><a href=\"https:\/\/doi.org\/10.1002\/jimd.70177\">https:\/\/doi.org\/10.1002\/jimd.70177<\/a><\/p>\n\n<div class=\"wp-block-buttons is-layout-flex wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link has-cyan-bluish-gray-background-color has-background wp-element-button\" href=\"https:\/\/cblc.it\/wp-content\/uploads\/2026\/06\/2026-J-of-Inher-Metab-Diseases-Olivieri-Gudelines-remethylation-disorders.pdf\">download pdf<\/a><\/div>\n<\/div>\n\n<p class=\"wp-block-paragraph\"><\/p>\n","protected":false},"excerpt":{"rendered":"<p>After a long and intense effort lasting more than two years and involving leading expertsand specialists in the field of metabolic diseases, the first revision of the global guidelines for&#8230;<\/p>\n","protected":false},"author":2,"featured_media":794,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[27,28],"tags":[30,29,32,31],"class_list":["post-928","post","type-post","status-publish","format-standard","has-post-thumbnail","category-news","category-projects","tag-cblc","tag-guidelines","tag-remethylation","tag-remethylation-defects"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.1 - 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