Case Report: Novel Genotype of ALG2-CDG and Confirmation of the Heptasaccharide Glycan (Neuac-Gal-glcnac-man2-glcnac2) As a Specific Diagnostic Biomarker
FRONTIERS IN GENETICS（2024）
关键词
CDG (congenital disorder of glycosylation),congenital myasthenic syndromes (CMS),ALG2,biomarker,glycan
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