Congenital Disorders of Glycosylation: A Multi-genetic Disease Family with Multiple Subcellular Locations

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.

Detalles Bibliográficos
Autor principal: Jaeken, Jaak
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2020
Materias:
Review Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8518092/
https://www.ncbi.nlm.nih.gov/pubmed/33554500
http://dx.doi.org/10.34763/jmotherandchild.20202402si.2005.000004

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8518092/
https://www.ncbi.nlm.nih.gov/pubmed/33554500
http://dx.doi.org/10.34763/jmotherandchild.20202402si.2005.000004

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