MAN1B1-CDG: Three new individuals and associated biochemical profiles
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DOI: 10.1016/j.ymgmr.2021.100775
Abstract: Congenital disorders of glycosylation (CDG) constitute an ever-growing group of genetic diseases affecting the glycosylation of proteins. CDG individuals usually present with severe multisystem disorders. MAN1B1-CDG is a CDG with nonspecific clinical symptoms such as… read more here.
Keywords: cdg; three new; cdg three; new individuals ... See more keywords