ArticleJIMD reports2019
A rare late progression form of Sly syndrome mucopolysaccharidosis.
Article in JIMD reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 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
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Who cites it
5 citing papers in PubMed, 11 citations in OpenAlex.
- MPS VII - Extending the classical phenotype.Molecular genetics and metabolism reports · 2022Article
- Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome).Therapeutics and clinical risk management · 2022Review
- Epidemiology of Mucopolysaccharidoses Update.Diagnostics (Basel, Switzerland) · 2021Review
- Hearing Loss in Mucopolysaccharidoses: Current Knowledge and Future Directions.Diagnostics (Basel, Switzerland) · 2020Review
- A rare late progression form of Sly syndrome mucopolysaccharidosis.JIMD reports · 2019Article
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
Mucopolysaccharidoses VII, or Sly syndrome, is linked to mutations in the beta-glucuronidase encoding gene. Sly syndrome is a rare condition and presentation is highly variable, ranging from a prenatal form with severe, lethal fetal hydrops to more benign adolescent or adult forms with simple thoracic kyphosis. Molecular diagnosis of this adult male patient identified two missense mutations in the
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Registered trials
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