ArticleMolecular syndromology2022
ALG1-CDG: A Patient with a Mild Phenotype and Literature Review.
Article in Molecular syndromology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
9 citing papers in PubMed.
- Glycoproteomics and Functional Characterization of Novel Variants in Siblings with ALG1-CDG.Biomolecules · 2026Article
- ALG1-mediated PDL1 glycosylation drives macrophage m2 polarization to promote bladder cancer progression.Cell death and differentiation · 2026Article
- Article
- Deciphering the Glycoproteomic Landscape of Mood Disorders: Unveiling Molecular Association Between CDG and Depression Resilience.Research square · 2025Article
- Case Report of Friedreich's Ataxia and ALG1 -Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia.American journal of medical genetics. Part A · 2025Article
- Normal transferrin glycosylation does not rule out severe ALG1 deficiency.JIMD reports · 2024Article
- A novel variant in ALG1 gene associated with congenital disorder of glycosylation: A case report and short literature review.Molecular genetics & genomic medicine · 2023Review
- Glycosylation and behavioral symptoms in neurological disorders.Translational psychiatry · 2023Review
- Perinatal manifestations of congenital disorders of glycosylation-A clue to early diagnosis.Frontiers in genetics · 2022Article
Corrections and comments
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
ALG1-congenital disorder of glycosylation (ALG1-CDG) is an autosomal recessive multisystem disease. We here present a patient with a mild phenotype of ALG1-CDG. A 15-month-old female was referred with hypotonia, failure to thrive, and developmental delay. At 8 months of age, failure to thrive, feeding difficulties and developmental delay became apparent, and an epileptic seizure was observed at 11 months of age. Progressive deterioration and swallowing difficulty were observed. A brain MRI revealed a widening of the cerebrospinal fluid spaces and ventricular system, and decreased protein C, protein S and antithrombin III levels were identified. The isoelectric focusing showed a type 1 pattern. A homozygous c.1076C>T (p.Ser359Leu) variant was found in the
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