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2003 | 57 | 4 | 425-444
Article title

Congenital disorders of glycosylation

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Languages of publication
PL
Abstracts
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.
Publisher

Year
Volume
57
Issue
4
Pages
425-444
Physical description
Contributors
References
Document Type
ARTICLE
Publication order reference
M. Ferens-Sieczkowska, Katedra i Zaklad Chemii i Immunochemii AM, ul. O.Bujwida 44A, 50-345 Wroclaw, Poland
Identifiers
YADDA identifier
bwmeta1.element.element-from-psjc-1eecef71-2445-3887-816d-91b1745a6244
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