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
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
Letter to the editor: SSR4-CDG, an ultra-rare X-linked congenital disorder of glycosylation affecting the TRAP complex: Review of 22 affected individuals including the first adult patient
Source: Molecular Genetics and Metabolism
Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan
Source: JIMD Reports
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