SRD5A3-CDG Latest Advances
Find the Latest Research About SRD5A3-CDG
Last Updated: 02/24/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 16 publications
Genetic disorders of dolichol synthesis and utilization.
Journal: Molecular genetics and metabolism
Published: July 08, 2025
N-glycoproteomic and proteomic alterations in SRD5A3-deficient fibroblasts.
Journal: Glycobiology
Published: July 15, 2024
Abnormal expression of lysosomal glycoproteins in patients with congenital disorders of glycosylation.
Journal: BMC research notes
Published: December 26, 2022
Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: December 25, 2022
SRD5A3-CDG: Twins with an intragenic tandem duplication.
Journal: European journal of medical genetics
Published: January 10, 2022
SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype.
Journal: Frontiers in genetics
Published: July 06, 2021
Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience.
Journal: The Journal of pediatrics
Published: August 04, 2020
Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs.
Journal: Annals of human genetics
Published: March 20, 2017
A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.
Journal: The Journal of pediatrics
Published: July 08, 2016
Last Updated: 02/24/2026