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Article

Congenital disorders of glycosylation: A multi-genetic disease family with multiple subcellular locations.

Journal of mother and child - 10 Nov 2020

Jaeken Jaak

Abstract excerpt

This review discusses a selection of congenital disorders of glycosylation that show peculiar features, such as an unusual presentation, different phenotypes, a novel biochemical/genetic mechanism, a relatively high frequency or a relatively efficient treatment.

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Identifiers

PMID: 33554500
DOI: 10.34763/jmotherandchild.20202402si.2005.000004
PMCID: PMC8518092

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