SRD5A3-CDG Latest Advances

Find the Latest Research About SRD5A3-CDG

Last Updated: 04/28/2026

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Found 19 publications

Clinical, biochemical and genetic characterization of an Egyptian patient with SRD5A3-congenital glycosylation disorder.

Clinical, biochemical and genetic characterization of an Egyptian patient with SRD5A3-congenital glycosylation disorder.

Journal: Ophthalmic genetics
Published: February 10, 2026

Neuro-Ophthalmic Presentation of Steroid 5a-Reductase Type 3 Congenital Disorder of Glycosylation: A Case of Monozygotic Twins.

Neuro-Ophthalmic Presentation of Steroid 5a-Reductase Type 3 Congenital Disorder of Glycosylation: A Case of Monozygotic Twins.

Journal: Cureus
Published: January 29, 2026

Extensive Hypoglycosylation of Serum N-Glycoproteins in SRD5A3 Deficiency.

Extensive Hypoglycosylation of Serum N-Glycoproteins in SRD5A3 Deficiency.

Journal: Journal of inherited metabolic disease
Published: November 17, 2025

Genetic disorders of dolichol synthesis and utilization.

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.

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.

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.

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

Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa.

Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa.

Journal: Genes
Published: January 18, 2022

SRD5A3-CDG: Twins with an intragenic tandem duplication.

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.

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.

Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience.

Journal: The Journal of pediatrics
Published: August 04, 2020

Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.

Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.

Journal: Clinical genetics
Published: November 23, 2018
Showing 1-12 of 19

Last Updated: 04/28/2026