Article

Clinical and genetic characterization of Congenital disorders of glycosylation in 20 Chinese patients: novel variants and genotype-phenotype correlations

2025-02-27

Abstract excerpt

<title>Abstract</title> <p> <bold>Background:</bold> Congenital disorders of glycosylation (CDG) are a complex and heterogeneous family of rare metabolic diseases that affect protein and lipid glycosylation and glycosylphosphatidylinositol synthesis. These disorders can affect multiple organs, leading to a broad spectrum of symptoms that vary among different CDG subtypes and between individuals with same type o...

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Literature Corpus work: 83ab7242-2b1a-5045-a623-dff0a9c37599
DOI: 10.21203/rs.3.rs-5807293/v1

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