ArticleMolecular genetics and metabolism reports2015
ALG11-CDG: Three novel mutations and further characterization of the phenotype.
Article in Molecular genetics and metabolism reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 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.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
8 citing papers in PubMed, 17 citations in OpenAlex.
- Insights into ALG3-CDG: A case study combining glycan profiling and genetic analysis.Molecular genetics and metabolism reports · 2025Article
- Fructose and Mannose in Inborn Errors of Metabolism and Cancer.Metabolites · 2021Review
- Congenital Disorders of Glycosylation from a Neurological Perspective.Brain sciences · 2021Review
- Arrest of Fetal Brain Development in ALG11-Congenital Disorder of Glycosylation.Pediatric neurology · 2019Article
- ALG11-CDG syndrome: Expanding the phenotype.American journal of medical genetics. Part A · 2019Article
- Recognizable phenotypes in CDG.Journal of inherited metabolic disease · 2018Review
- PMM2-CDG and sensorineural hearing loss.Journal of inherited metabolic disease · 2017Article
- Identification and characterization of transcriptional control region of the human beta 1,4-mannosyltransferase gene.Cytotechnology · 2017Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report on two novel patients with ALG11-CDG. The phenotype was characterized by severe psychomotor disability, progressive microcephaly, sensorineural hearing loss, therapy-resistant epilepsy with burst suppression EEG, cerebral atrophy with, in one of them, neuronal heterotopia, and early lethality. Analysis of
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Identifiers
What OpenQuestion holds
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.