Article

Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up

2020-06-23

Abstract excerpt

<h4>Background: </h4> Congenital disorders of glycosylation (CDG) result from defects in the synthesis of glycans and the attachment of glycans to proteins and lipids. Our study aimed to describe the clinical, biochemical and molecular findings of CDG patients, and to present the long-term follow-up. Material and methods: A single-centre study (1995-2019 years) of patients with congenital disorders of N-glycosylat...

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Literature Corpus work: b4f1a64c-a40c-54bf-a4b0-f4e5c1a50a86
DOI: 10.21203/rs.3.rs-36995/v1

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