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- Title
Perinatal manifestations of congenital disorders of glycosylation—A clue to early diagnosis.
- Authors
Greczan, Milena; Rokicki, Dariusz; Wesół-Kucharska, Dorota; Kaczor, Magdalena; Rawiak, Agata; Jezela-Stanek, Aleksandra
- Abstract
N-glycosylation defects—isolated or mixed with other glycosylation defects—are the most frequent congenital disorders of glycosylation and present mostly in childhood, with a specific combination of non-specific phenotypic features. The diagnosis, however, is often delayed. The aim of this study is to describe the perinatal phenotype of congenital disorders of N-glycosylation. We present an analysis of perinatal symptoms in a group of 24 one-center Polish patients with N-glycosylation defects—isolated or mixed. The paper expands the perinatal phenotype of CDGs and shows that some distinctive combinations of symptoms present in the perinatal period should raise a suspicion of CDGs in a differential diagnosis.
- Subjects
CONGENITAL disorders; GLYCOSYLATION; EARLY diagnosis; PERINATAL period; HYDROPS fetalis
- Publication
Frontiers in Genetics, 2022, Vol 13, p1
- ISSN
1664-8021
- Publication type
Article
- DOI
10.3389/fgene.2022.1019283