ArticleBMJ case reports2017
Mucopolysaccharidosis type IVA (Morquio A): a close differential diagnosis of spondylo-epiphyseal dysplasia.
Article in BMJ case reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 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
3 citing papers in PubMed, 11 citations in OpenAlex.
- Morquio Syndrome Presenting with Dural Band Pathology: A Case Report.Journal of laboratory physicians · 2020Article
- Modeling Morquio A Syndrome: An Anthropometric Study of Body Characteristics and Stature.Diagnostics (Basel, Switzerland) · 2020Article
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Authors and funding
4 authors at 2 institutions in 2 countries.
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Abstract
Patients with mucopolysaccharidoses (MPS) have a plethora of multisystemic manifestations depending on the particular type, and atypical presentations are not uncommon. MPS type IVA (Morquio A syndrome) has predominant musculoskeletal system involvement and corneal clouding with normal intelligence and can be misdiagnosed as primary skeletal disorders in clinical practice. The absence of corneal clouding with normal urinary glycosaminoglycans (GAGs) level in a proportion of patients with MPS IVA makes the correct diagnosis even more challenging for physicians. Healthcare providers across specialties should have a high degree of suspicion for MPS IVA in all patients with suspected spondylo-epiphyseal dysplasia as early diagnosis and early treatment significantly improve the clinical outcome and activity of daily living.
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