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

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

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...

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Bibliographic Details
Main Authors: Melis Kose, Engin Kose, Mehtap Kagnici, Hande Gazeteci Tekin, Burçin Ozen, Taha Reşid Ozdemir, Özgür Kirbiyik, Huseyin Onay, Ünsal Yilmaz, Aycan Unalp
Format: Article
Language:English
Published: Galenos Publishing House 2020-12-01
Series:Journal of Behçet Uz Children's Hospital
Subjects:
cdg
congenital disorder of glycosylation
pmm2
mpi
alg1
alg3
dolk
cog4
next generation sequence analyse
sialotransferrin electrophoresis
Online Access:https://jag.journalagent.com/z4/download_fulltext.asp?pdir=behcetuz&un=BUCHD-09471

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https://jag.journalagent.com/z4/download_fulltext.asp?pdir=behcetuz&un=BUCHD-09471

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