The First Korean Case of MAN1B1-Congenital Disorder of Glycosylation Diagnosed Using Whole-Exome Sequencing and Matrix-Assisted Laser Desorption Ionization Time-of-Flight Mass Spectrometry
Source: Annals of laboratory medicine
Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community
Source: Orphanet Journal of Rare Diseases
A community-centric model for conference co-creation: the world conference on CDG for patients, families and professionals
Source: Research Involvement and Engagement
Wilson Disease: Diagnostic Challenges and Differential Diagnoses
Source: Clinical and Translational Metabolism
Missense variant in PIGM associated with severe cystic encephalomalacia and portal vein thrombosis: Phenotypic and genotypic expansion of the glycosylphosphatidylinositol biosynthesis defect-1 (GPIBD1)
Source: American Journal of Medical Genetics, Part A
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