期刊
ADVANCES IN NEONATAL CARE
卷 12, 期 2, 页码 90-95出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/ANC.0b013e318241cb20
关键词
carbohydrate-deficient glycoprotein syndromes; CDG; congenital disorders of glycosylation; disialotransferrin developmental deficiency; Jaeken's disease
类别
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.
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