Associated Papers
Perinatal manifestations of congenital disorders of glycosylation-A clue to early diagnosis.
Greczan M et al.
Frontiers in Genetics, 2022
36583024 (PubMed )
Supplement: Table1.pdf
Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case.
Kousal B et al.
Folia Biologica, 2019
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.
Morava E et al.
Brain : a Journal of Neurology, 2010
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
Cantagrel V et al.
Cell, 2010
Select a paper to view details