Associated Papers
Repurposing the HMG-CoA Reductase Inhibitor Atorvastatin for SRD5A3-CDG.
Daghar H et al.
Biorxiv : the Preprint Server for Biology, 2026
Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.
Zaslavsky K et al.
Investigative Ophthalmology & Visual Science, 2025
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
N-glycoproteomic and proteomic alterations in SRD5A3-deficient fibroblasts.
Garapati K et al.
Glycobiology, 2024
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.
Wilson MP et al.
Cell, 2024
Mirror Movements and Dystonia in SRD5A3-Related Congenital Disorders of Glycosylation: Expanding the Phenotypic and Genotypic Spectrum.
Holla VV et al.
Movement Disorders Clinical Practice, 2023
A rare case of SRD5A3-CDG in a patient with ataxia and telangiectasia: A case report.
Nabavizadeh SH et al.
Clinical Case Reports, 2022
Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19.
López-Rodríguez R et al.
Scientific Reports, 2022
Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa.
Tachibana N et al.
Genes, 2022
SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype.
Kamarus Jaman N et al.
Frontiers in Genetics, 2021
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.
Cipriani V et al.
Genes, 2020
Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.
Medrano C et al.
Clinical Genetics, 2019
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
Early-onset retinal dystrophy and chronic dermatitis in a girl with an undiagnosed congenital disorder of glycosylation (SRD5A3-CDG).
Khan AO
Ophthalmic Genetics, 2018
Identification of a case of SRD5A3-congenital disorder of glycosylation (CDG1Q) by exome sequencing.
Gupta N et al.
The Indian Journal of Medical Research, 2018
Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs.
Bastaki F et al.
Annals of Human Genetics, 2018
Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.
Riazuddin S et al.
Molecular Psychiatry, 2017
Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.
Taylor RL et al.
Jama Ophthalmology, 2017
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
Adult phenotype and further phenotypic variability in SRD5A3-CDG.
Kara B et al.
Bmc Medical Genetics, 2014
Life with too much polyprenol: polyprenol reductase deficiency.
Gründahl JE et al.
Molecular Genetics and Metabolism, 2012
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.
Morava E et al.
Brain : a Journal of Neurology, 2010