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Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology

10 Apr 2024

Abstract excerpt

We have identified 200 congenital disorders of glycosylation (CDG) caused by 189 different gene defects and have proposed a classification system for CDG based on the mode of action. This classification includes 8 categories: 1. Disorders of monosaccharide synthesis and interconversion, 2. Disorders of nucleotide sugar synthesis and transport, 3. Disorders of N-linked protein glycosylation, 4. Disorders of...

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PMID: 38653092
DOI: 10.1016/j.ymgme.2024.108476

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