An ALG12-CDG patient with a novel homozygous intronic mutation associated with low ALG12 mRNA
Source: Orphanet Journal of Rare Diseases
Heterozygous pathogenic STT3A variation leads to dominant congenital glycosylation disorders and functional validation in zebrafish
Source: Orphanet Journal of Rare Diseases
Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan
Source: JIMD Reports
Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes
Source: Molecular Genetics and Metabolism
Computational profiling of molecular biomarkers in congenital disorders of glycosylation Type-I and binding analysis of Ginkgolide A with P4HB
Source: Computers in Biology and Medicine
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