Congenital disorders of glycosylation

• Autorzy: M. Ferens-Sieczkowska
• Języki publikacji: PL

Abstrakty

EN

Congenital disorders of glycosylation are group of hereditary resulting in severe psychomotor retardation and multiorgan failure. So far eleven different defects were identified on the pathway of N-glycan biosynthesis. Seven of them belong to CDG type I and result in incomplete occupation of potential N-glycosylation sites. Four defects were found in N-glycan processing. Molecular background of CDG and potential perspectives of therapy are summarised and updated in this review.

Słowa kluczowe

EN

CONGENITAL DISORDER; GLYCOSYLATION

• Czasopismo: Postępy Higieny i Medycyny Doświadczalnej
• Rocznik: 2003
• Tom: 57
• Numer: 4
• Strony: 425-444

Twórcy

autor

M. Ferens-Sieczkowska

• Typ dokumentu: ARTICLE
• Bibliografia: M. Ferens-Sieczkowska, Katedra i Zaklad Chemii i Immunochemii AM, ul. O.Bujwida 44A, 50-345 Wroclaw, Poland