ALG8‐CDG: Molecular and phenotypic expansion suggests clinical management guidelines
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DOI: 10.1002/jimd.12527
Abstract: Congenital disorders of glycosylation are a continuously expanding group of monogenic disorders of glycoprotein and glycolipid glycan biosynthesis. These disorders mostly manifest with multisystem involvement. Individuals with ALG8‐CDG commonly present with hypotonia, protein‐losing enteropathy, and… read more here.
Keywords: cdg; alg8 cdg; clinical management; molecular phenotypic ... See more keywords