ArticleJournal of inherited metabolic disease2021
Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG.
Article in Journal of inherited metabolic disease, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 19 citations in OpenAlex.
- Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation.Science advances · 2026Article
- Endocrine Implications of Congenital Disorders of GlycosylationJournal of clinical research in pediatric endocrinology · 2026Review
- Insights into ALG3-CDG: A case study combining glycan profiling and genetic analysis.Molecular genetics and metabolism reports · 2025Article
- Adrenal insufficiency in inborn errors of metabolism and vice versa: Case reports and review of the literature.Molecular genetics and metabolism reports · 2025Review
- First case report of effective and safe application of cannabidiol to treat concurrent ALG3-CDG and Lennox-Gastaut Syndrome.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Causes of mortality in the congenital disorders of glycosylation.Molecular genetics and metabolism · 2025Article
- Endocrine system disturbances in children with inherited metabolic diseases: a narrative review.Frontiers in endocrinology · 2025Review
- Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.Molecular genetics and metabolism · 2024Article
- Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation.Molecular genetics and metabolism · 2024Article
- Deficient glycan extension and endoplasmic reticulum stresses in ALG3-CDG.Journal of inherited metabolic disease · 2024Article
- Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.Journal of inherited metabolic disease · 2022Article
- Expression of ALG3 in Hepatocellular Carcinoma and Its Clinical Implication.Frontiers in molecular biosciences · 2022Article
- ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings.BMC ophthalmology · 2021Review
Corrections and comments
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Authors and funding
21 authors at 9 institutions in 3 countries.
Funding
Abstract
Congenital disorders of glycosylation (CDGs) are a continuously expanding group of monogenic disorders of glycoprotein and glycolipid biosynthesis that cause multisystem diseases. Individuals with ALG3-CDG frequently exhibit severe neurological involvement (epilepsy, microcephaly, and hypotonia), ocular anomalies, dysmorphic features, skeletal anomalies, and feeding difficulties. We present 10 unreported individuals diagnosed with ALG3-CDG based on molecular and biochemical testing with 11 novel variants in ALG3, bringing the total to 40 reported individuals. In addition to the typical multisystem disease seen in ALG3-CDG, we expand the symptomatology of ALG3-CDG to now include endocrine abnormalities, neural tube defects, mild aortic root dilatation, immunodeficiency, and renal anomalies. N-glycan analyses of these individuals showed combined deficiencies of hybrid glycans and glycan extension beyond Man
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.