| Literature DB >> 22469961 |
Amanda G Woods1, Christopher W Woods, Timothy M Snow.
Abstract
Congenital disorders of glycosylation (CDG) are a group of disorders involving a defect in the synthesis of oligosaccharides. Oligosaccharides are fundamental for protein stability and cellular communication and are present in almost every cell in the human body. A defect in the synthesis of oligosaccharides can result in multisystemic effects. Congenital disorders of glycosylation are classified into type I and type II disorders, each with subgroup classifications. All CDGs are autosomal recessive disorders, with CDG type I being the most common. This article will explore both types of CDG, their clinical presentation, diagnosis, and management.Entities:
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Year: 2012 PMID: 22469961 DOI: 10.1097/ANC.0b013e318241cb20
Source DB: PubMed Journal: Adv Neonatal Care ISSN: 1536-0903 Impact factor: 1.968