Вродени дефекти на гликозилиране

  • Малина Станчева-Иванова
Keywords: вродени дефекти на гликозилиране

Abstract

Вродените дефекти на гликозилиране представляват група от редки генетични, заболявания, дължащи се на дефекти в комплексния процес гликозилиране. По настоящем са известни повече от 71 типа, а броят им непрекъснато се увеличава, тъй като гените, които участват в процеса на гликозилиране, представляват 1-2% от човешкия геном. Те се характеризират със значителна клинична хетерогенност, като при повечето от тях се установяват неврологични симптоми. През последните 20 години са разработени ефективни методи за скрининг, диагноза и лечение на вродените дефекти на гликозилиране.

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Published
2016-06-15
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1.
Станчева-Иванова М. Вродени дефекти на гликозилиране. Редки болести и лекарства сираци [Internet]. 2016Jun.15 [cited 2022Jun.26];7(2):15-. Available from: http://journal.raredis.org/index.php/RBLS/article/view/52
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