Congenital Disorder of Glycosylation: Clinical and Molecular Characteristics of 9 Patients from Turkey

• Главные авторы: Melis Kose (Автор), Engin Kose (Автор), Mehtap Kagnici (Автор), Hande Gazeteci Tekin (Автор), Burçin Ozen (Автор), Taha Reşid Ozdemir (Автор), Özgür Kirbiyik (Автор), Huseyin Onay (Автор), Ünsal Yilmaz (Автор), Aycan Unalp (Автор)
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• Опубликовано: Galenos Publishing House, 2020-12-01T00:00:00Z.
• Предметы: article
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INTRODUCTION: Congenital disorders of glycosylation (CDG) is a group of genetic diseases that lead to impairment in protein and lipid glycosylation and glycosylphosphatidylinositol synthesis. More than 140 types of CDG have been identified and the number is increasing day by day. Glycosylation is ve...