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

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Kose M., Kose E., Kagnici M., Tekin H. G., Ozen B., Ozdemir T. R., ...Daha Fazla

IZMIR DR BEHCET UZ COCUK HASTANESI DERGISI, cilt.10, sa.3, ss.267-273, 2020 (ESCI) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 10 Sayı: 3
  • Basım Tarihi: 2020
  • Doi Numarası: 10.5222/buchd.2020.09471
  • Dergi Adı: IZMIR DR BEHCET UZ COCUK HASTANESI DERGISI
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.267-273
  • Anahtar Kelimeler: CDG, congenital disorder of glycosylation, PMM2, MPI, ALG1, ALG3, DOLK, COG4, next- generation sequence analysis, sialotransferrin electrophoresis, CDG
  • Ankara Üniversitesi Adresli: Hayır

Özet

Objective: Congenital defects of glycosylation (CDG) belongs to a group of genetic diseases that lead to impairment in protein, lipid glycosylation and glycosylphosphatidylinositol synthesis. More than 140 types of CDG have been identified and the number is increasing day by day. Since glycosylation is very important for post-translational process and glycosylation is required for half of the proteins in human organism to be able to exert an effect, causes the disease to have an extremely wide clinical spectrum in affected patients. Our aim is to share the clinical features of our patients with CDG and contribute to increase in the awareness of this disease group with highly heterogeneous clinical spectrum.