Associated Papers
Extensive Hypoglycosylation of Serum N-Glycoproteins in SRD5A3 Deficiency.
Jain A et al.
Journal of Inherited Metabolic Disease, 2026
SRD5A3-CDG: Twins with an intragenic tandem duplication.
Rieger M et al.
European Journal of Medical Genetics, 2022
SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features.
Wheeler PG et al.
American Journal of Medical Genetics. Part A, 2016
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