<abstract xmlns="http://www.w3.org/1999/xhtml">

<p>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.</p></abstract>

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.

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

Journal of Mother and Child

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,...

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

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.

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

Article Category: Review paper

Pubblicato online: 10 nov 2020

Pagine: 14 - 20

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

Parole chiavecongenital 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.

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