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

| 10 nov 2020

Journal of Mother and Child's Cover Image

Journal of Mother and Child

Volume 24 (2020): Numero 2 (June 2020)

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Article Category: Review paper

Pubblicato online: 10 nov 2020

Pagine: 14 - 20

DOI: https://doi.org/10.34763/jmotherandchild.20202402si.2005.000004

Parole chiave
congenital disorders of glycosylation, protein glycosylation defects, N-glycosylation disorders, O-glycosylation disorders, cytosolic CDG, endoplasmic reticulum-related CDG, ER-related CDG, ER–Golgi intermediate compartment (ERGIC) CDG, plasma membrane, sarcolemmal membrane

© 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.

eISSN:: 2719-535X
Lingua:: Inglese

Frequenza di pubblicazione:: Volume Open
Argomenti della rivista:: Medicine, Clinical Medicine, Pediatrics and Juvenile Medicine, Paediatric Haematology and Oncology, Public Health

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