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
The long way to diagnosis: attention disorder, alcohol addiction or congenital disorder of glycosylation? A case report
Source: BMC Psychiatry
A comprehensive update of genotype–phenotype correlations in PMM2-CDG: insights from molecular and structural analyses
Source: Orphanet Journal of Rare Diseases
Intrinsic Regulatory Mechanisms Protect Human Skin Mast Cells from Excessive MRGPRX2 Activation: Paucity in LAD2 (Laboratory of Allergic Diseases 2) Cells Contributes to Hyperresponsiveness of the Mast Cell Line
Source: Journal of Investigative Dermatology
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