ArticleMolecular genetics & genomic medicine2021
Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy.
Article in Molecular genetics & genomic medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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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.
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Who cites it
8 citing papers in PubMed, 9 citations in OpenAlex.
- Natural History of Morquio A Syndrome.Journal of inherited metabolic disease · 2026Review
- Caregiver Reports of Neurodevelopmental Functions in Pediatric Lysosomal Storage Disorders: A Scoping Review.Journal of inherited metabolic disease · 2026Article
- Development and characterization of a model of mucopolysaccharidosis type IVA for evaluating therapies targeting bone disease.Disease models & mechanisms · 2026Article
- Lentiviral Vector-MediatedHuman gene therapy · 2024Article
- Pain management challenges in a patient with mucopolysaccharidosis IVA.Clinical case reports · 2024Article
- Measuring health related quality of life (HRQoL) in Lysosomal Storage Disorders (LSDs): a rapid scoping review of available tools and domains.Orphanet journal of rare diseases · 2024Article
- Clinical characteristics and effects of enzyme replacement therapy with elosulfase alfa in Korean patients with mucopolysaccharidosis type IVA.Molecular genetics and metabolism reports · 2022Article
- Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy.Molecular genetics & genomic medicine · 2021Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundMucopolysaccharidosis IVA (MPS IVA, also called Morquio A syndrome) is caused by a deficiency of N-acetylglucosamine-6-sulfate sulfatase (GALNS) and results in skeletal dysplasia symptoms such as short stature and abnormal gait. Treatments include enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT), but the effects are limited depending on the age of initiation and clinical phenotype. Thus, this study aims to assess the effects of treatments on MPS IVA patients compared to untreated MPS IVA patients and an age-matched control group.
methodsWe used activity of daily living (ADL) survey with 4 sections: "movement," "movement with cognition," "cognition," and "other MPS symptoms." Lower scores indicate more assistance required. This study included 161 patients, 270 total surveys, and 70 patients with longitudinal data.
resultsWe describe 134 severe patients and 25 attenuated patients. ERT and HSCT treatment improved only the "other MPS symptoms" section in severe patients. There were no differences between ERT and HSCT severe patient scores. A 19-year-old male patient, who had robust physical training, provided a significant increase in "movement" without treatment, suggesting the importance of exercise.
conclusionOverall, this ADL questionnaire has demonstrated validation and reliability in assessing the MPS IVA patients and therapeutic efficacy.
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Registered trials
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