Article
Diagnosis of Congenital Disorders of Glycosylation Type II Subtypes Through Comprehensive N-Glycan Profiling by Mass Spectrometry.
International journal of molecular sciences - 15 Jul 2026
Mól Alan R, Fontes Nilza do C, Santos Savana C L, Costa E Silva Cynthia, Carvalho Gerson da S, Lima Bruno J C B, de Mello Walquíria D, de Carvalho Daniel R, Barbosa Eder A, Lefeber Dirk J, Mazzeu Juliana F, Brum Jaime M, Brand Guilherme D
Abstract excerpt
Congenital disorders of glycosylation (CDG) are a group of inherited metabolic diseases rapidly growing due to the discovery of new subtypes. As with many genetic conditions, their diagnosis can be challenging, impairing proper patient care and causing additional suffering to patients and their families. We have developed an N-glycomics strategy that can provide insightful information towards diagnosing CDG type...
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