Congenital disorders of glycosylation: A multi-genetic disease family with multiple subcellular locations
| 10. Nov. 2020
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Article Category: Review paper
Online veröffentlicht: 10. Nov. 2020
Seitenbereich: 14 - 20
DOI: https://doi.org/10.34763/jmotherandchild.20202402si.2005.000004
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© 2020 Jaak Jaeken, published by Sciendo
This work is licensed under the Creative Commons Attribution 4.0 International License.
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.