ArticleThe Lancet. Neurology2012
Neurology of inherited glycosylation disorders.
Article in The Lancet. Neurology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 106 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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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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
106 citing papers in PubMed, 204 citations in OpenAlex.
- Results From a Phase 2, Open-Label Study Evaluating the Safety, Tolerability, and Effect on Ataxia of GLM101 in Three Adult Patients With PMM2-CDG.Journal of inherited metabolic disease · 2026Trial
- Multi-Omics Characterization of a NovelMetabolites · 2025Article
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- Neurological Complications in Inborn Errors of Immunity: A Scoping Review of Clinical Spectrum, Pathophysiological Mechanisms, and Therapeutic Strategies.Clinical reviews in allergy & immunology · 2025Article
- FUT8 Regulates Cerebellar Neurogenesis and Development Through Maintaining the Level of Neural Cell Adhesion Molecule Cntn2.Molecular neurobiology · 2025Article
- Lipid-Modulated, Graduated Inhibition of N-Glycosylation Pathway Priming Suggests Wide Tolerance of ER Proteostasis to Stress.ACS central science · 2025Article
- Glycosylation Pathways Targeted by Deregulated miRNAs in Autism Spectrum Disorder.International journal of molecular sciences · 2025Article
- The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.Brain : a journal of neurology · 2024Observational
- Molecular characterization of Rft1, an ER membrane protein associated with congenital disorder of glycosylation RFT1-CDG.bioRxiv : the preprint server for biology · 2024Article
- Article
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- Gys1 Antisense Therapy Prevents Disease-Driving Aggregates and Epileptiform Discharges in a Lafora Disease Mouse Model.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2023Article
- Ionizable Lipid Nanoparticles for Therapeutic Base Editing of Congenital Brain Disease.ACS nano · 2023Article
- Glycosylation and behavioral symptoms in neurological disorders.Translational psychiatry · 2023Review
- Immunomodulatory role of glycoRNAs in the brain.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2023Review
- [Advances in the diagnosis and treatment of phosphomannomutase 2 deficiency].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Review
- Identification and characterization of a new variation inFrontiers in genetics · 2023Article
- Sialic acid: an attractive biomarker with promising biomedical applications.Asian biomedicine : research, reviews and news · 2022Review
- PIGN mutation multiple congenital anomalies-hypotonia-seizures syndrome 1: A case report.World journal of clinical cases · 2022Article
- The Role ofCells · 2022Article
46 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 3 institutions in 2 countries.
Funding
Abstract
Congenital disorders of glycosylation comprise most of the nearly 70 genetic disorders known to be caused by impaired synthesis of glycoconjugates. The effects are expressed in most organ systems, and most involve the nervous system. Typical manifestations include structural abnormalities (eg, rapidly progressive cerebellar atrophy), myopathies (including congenital muscular dystrophies and limb-girdle dystrophies), strokes and stroke-like episodes, epileptic seizures, developmental delay, and demyelinating neuropathy. Patients can also have neurological symptoms associated with coagulopathies, immune dysfunction with or without infections, and cardiac, renal, or hepatic failure, which are common features of glycosylation disorders. The diagnosis of congenital disorder of glycosylation should be considered for any patient with multisystem disease and in those with more specific phenotypic features. Measurement of concentrations of selected glycoconjugates can be used to screen for many of these disorders, and molecular diagnosis is becoming more widely available in clinical practice. Disease-modifying treatments are available for only a few disorders, but all affected individuals benefit from early diagnosis and aggressive management.
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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.