ArticleThe Annals of otology, rhinology, and laryngology2015
Airway-related symptoms and surgeries in patients with mucopolysaccharidosis I.
Article in The Annals of otology, rhinology, and laryngology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 29 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.
Mucopolysaccharidosis I (MPS I) Registry
The Establishment of a Cross-specialty Collaboration Platform Among Different Medical Specialties Based on High-risk Criteria for Mucopolysaccharidosis Confirmative Diagnosis
Who cites it
29 citing papers in PubMed.
- RNA activation as a precision dosing modality: MTL-CEBPA for controlled enzyme elevation in MPS I-H.Frontiers in medicine · 2026Article
- Mucopolysaccharidoses-What Clinicians Need to Know: A Clinical, Biochemical, and Molecular Overview.Biomolecules · 2025Review
- Expanding the Spectrum: A Rare Case of Morquio Syndrome With Bronchial Asthma and Seizure Disorder.Clinical case reports · 2025Article
- Otorhinolaryngological Problems in Mucopolysaccharidoses: A Review of Common Symptoms in a Rare Disease.Brain sciences · 2024Review
- Intracranial tumor in a patient with mucopolysaccharidosis type 1 (Scheie syndrome): An extremely rare combination.Heliyon · 2024Article
- Intensive care risk and long-term outcomes in pediatric allogeneic hematopoietic cell transplant recipients.Blood advances · 2024Article
- MPSI Manifestations and Treatment Outcome: Skeletal Focus.International journal of molecular sciences · 2022Review
- Non-cardiac Manifestations in Adult Patients With Mucopolysaccharidosis.Frontiers in cardiovascular medicine · 2022Review
- Pre-operative Considerations in Adult Mucopolysaccharidosis Patients Planned for Cardiac Intervention.Frontiers in cardiovascular medicine · 2022Review
- Disease Manifestations in Mucopolysaccharidoses and Their Impact on Anaesthesia-Related Complications-A Retrospective Analysis of 99 Patients.Journal of clinical medicine · 2021Article
- Airway Abnormalities in Adult Mucopolysaccharidosis and Development of Salford Mucopolysaccharidosis Airway Score.Journal of clinical medicine · 2021Review
- Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia.Orphanet journal of rare diseases · 2021Article
- Review
- Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations.International journal of molecular sciences · 2020Review
- Otolaryngologists and the Early Diagnosis of Mucopolysaccharidoses: A Cross-Sectional Study.Diagnostics (Basel, Switzerland) · 2019Article
- Hurler-Scheie syndrome in Niger: a case series.Journal of medical case reports · 2019Article
- Successful spinal anesthesia in a patient with mucopolysaccharidosis type I under femoral fracture reduction and external fixation.Pediatric investigation · 2019Article
- Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases.International journal of molecular sciences · 2019Review
- ENT and mucopolysaccharidoses.Italian journal of pediatrics · 2018Review
- Anesthesiological risks in mucopolysaccharidoses.Italian journal of pediatrics · 2018Review
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveMucopolysaccharidosis I (MPS I) is a progressive, debilitating, and life-threatening genetic disease, which, owing to the nonspecific nature of the early symptoms, is often unrecognized and associated with significant diagnostic delays. To improve early recognition leading to early diagnosis and initiation of treatment, we characterized the extent of airway-related symptoms and surgeries among patients with MPS I.
methodsAnalysis of the frequency of airway-related symptoms and surgeries from 1041 patients enrolled in the MPS I Registry and correlation with other systemic manifestations of MPS I.
resultsAirway-related symptoms (macroglossia, enlarged tonsils, reactive airway disease/asthma, or sleep disturbances) were reported for as many as 85% of Hurler, 83% of Hurler-Scheie, and 65% of Scheie patients-very often before the diagnosis of MPS I was established. Surgeries for an airway indication were reported in 39% of patients and many had at least 1 airway-related surgery before the diagnosis of MPS I was confirmed. The mean percentage of patients with airway-related symptoms for whom hernias and/or dysostosis multiplex were also reported was 84% and 54%, respectively.
conclusionAirway-related symptoms and surgeries are common and often the earliest presenting feature in MPS I. Improved recognition of early MPS I disease manifestations may lead to earlier diagnosis and treatment.
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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.