Epidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives
Article in Journal of Rare Diseases (December 2022)
The most recent citing publications are shown below. View all 5 publications that cite this research output on Dimensions.
A novel variant in GNPNAT1 gene causing a spondylo‐epi‐metaphyseal dysplasia resembling PGM3—Desbuquois like dysplasia
Article in American Journal of Medical Genetics Part A (August 2022)
Primary Immunodeficiency and Thrombocytopenia
Article in International Reviews of Immunology (January 2021)