ReviewBrain sciences2024
Otorhinolaryngological Problems in Mucopolysaccharidoses: A Review of Common Symptoms in a Rare Disease.
Review in Brain sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 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
2 citing papers in PubMed.
- Explainable AI-driven graph-based neural networks for mucopolysaccharidoses diagnosis.BioData mining · 2026Article
- Merging evans syndrome with mucopolysaccharidosis type II: a case report.Frontiers in pediatrics · 2026Article
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.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe mucopolysaccharidoses (MPSs) are very rare lysosomal diseases. MPSs belong to inherited diseases; however, newborns are usually asymptomatic. A deficiency of one of the enzymes, which is responsible for glycosaminoglycan (GAG) catabolism, results in the accumulation of this material. GAGs lead to progressive damage to tissues. More than 90% of patients with MPS suffer from otitis media with effusion or recurrent otitis media, craniofacial dysmorphia, obstructive sleep apnea, different types of hearing loss, and progressive upper and lower airway dysfunction. Patients visit otolaryngologists often before the diagnosis of MPS. Thus, the awareness of symptoms of MPS is crucial for otolaryngologists and pediatricians. The earlier the diagnosis is made, the more effective treatment is. Ineffective or delayed treatment leads to premature death. Two principal treatments for MPS are currently available: hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT). In recent years, there has been a growing interest in gene therapy as a potential treatment for patients with MPS. Mortality in patients with MPS typically occurs during childhood and early adolescence as a consequence of upper and lower respiratory diseases.
methodsThis systematic review is based on papers available in the following scientific databases: MEDLINE (via PubMed), Web of Science, Scopus, and the Cochrane Library.
resultsAfter screening, 72 articles met our inclusion criteria.
conclusionsIt is of paramount importance that otolaryngologists are involved in this field. This narrative review examines and synthesizes the otolaryngologic issues encountered in patients with MPS.
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Registered trials
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