Evaluation of Patients Diagnosed with Congenital Glycosylation Defects: A Rainbow of Inherited Metabolic Disorders

Evaluation of Patients Diagnosed with Congenital Glycosylation Defects: A Rainbow of Inherited Metabolic Disorders

Introduction: Congenital glycosylation defects (CDGs) manifest with multisystemic symptoms involving the immune, central nervous, endocrine, and musculoskeletal systems. A total of 137 distinct CDG types have been identified to date. Materials and Methods: Patients diagnosed with CDG in the Division...

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Main Authors: Sebile Kılavuz, Fatma Derya Bulut, Deniz Kor, Berna Şeker Yılmaz, Atıl Bişgin, Fadli Demir, Bahriye Atmış, Derya Alabaz, Neslihan Mungan, Mustafa Yılmaz
Format: Article
Language:English
Published: Istanbul University Press 2023-09-01
Series:Çocuk Dergisi
Subjects:
glycosylation
congenital glycosylation defects
pmm2
mpi
dolk
tmem-165
pign
cdg
Online Access:https://cdn.istanbul.edu.tr/file/JTA6CLJ8T5/9BF7402D9B124A75B9425688B467706C
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