ReviewDiagnostics (Basel, Switzerland)2022
Mucopolysaccharidosis: What Pediatric Rheumatologists and Orthopedics Need to Know.
Review in Diagnostics (Basel, Switzerland), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 15 citations in OpenAlex.
- Article
- Dental Health in Pediatric Patients With Different Types of Mucopolysaccharidosis: Retrospective Cross-Sectional Study.JMIR pediatrics and parenting · 2026Article
- Evaluation of GlcNAc-Configured Glycomimetics as Pharmacological Chaperones of NAGLU for the Treatment of Mucopolysaccharidosis IIIB.Biomolecules · 2026Article
- Genetic variations in the IDUA gene in Tunisian MPS I families: Identification of a novel microdeletion disrupting substrate binding and structural insights.Molecular genetics and metabolism reports · 2025Article
- MUSCULOSKELETAL ALTERATIONS OF ORTHOPEDIC INTEREST IN MUCOPOLYSACCHARIDOSES.Acta ortopedica brasileira · 2025Article
- Otorhinolaryngological Problems in Mucopolysaccharidoses: A Review of Common Symptoms in a Rare Disease.Brain sciences · 2024Review
- Evaluation of tendon and ligament microstructure and mechanical properties in a canine model of mucopolysaccharidosis I.Journal of orthopaedic research : official publication of the Orthopaedic Research Society · 2024Article
- Mucopolysaccharidosis type IIIB: a current review and exploration of the AAV therapy landscape.Neural regeneration research · 2024Review
- Molecular Mechanisms in Pathophysiology of Mucopolysaccharidosis and Prospects for Innovative Therapy.International journal of molecular sciences · 2024Review
- Case report: Prader-Willi syndrome and inflammatory arthritis-An important consideration.Frontiers in pediatrics · 2023Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mucopolysaccharidosis (MPS) is a group of disorders caused by the reduced or absent activity of enzymes involved in the glycosaminoglycans (GAGs) degradation; the consequence is the progressive accumulation of the substrate (dermatan, heparan, keratan or chondroitin sulfate) in the lysosomes of cells belonging to several tissues. The rarity, the broad spectrum of manifestations, the lack of strict genotype-phenotype association, and the progressive nature of MPS make diagnosing this group of conditions challenging. Musculoskeletal involvement represents a common and prominent feature of MPS. Joint and bone abnormalities might be the main clue for diagnosing MPS, especially in attenuated phenotypes; therefore, it is essential to increase the awareness of these conditions among the pediatric rheumatology and orthopedic communities since early diagnosis and treatment are crucial to reduce the disease burden of these patients. Nowadays, enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT) are available for some MPS types. We describe the musculoskeletal characteristics of MPS patients through a literature review of MPS cases misdiagnosed as having rheumatologic or orthopedic conditions.
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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.