ArticleMolecular genetics and metabolism reports2020
Sialidosis type II: Expansion of phenotypic spectrum and identification of a common mutation in seven patients.
Article in Molecular genetics and metabolism reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 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.
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.
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Who cites it
12 citing papers in PubMed.
- Review
- Mesenchymal Stem Cell-Derived Extracellular Vesicles: Seeking into Cell-Free Therapies for Bone-Affected Lysosomal Storage Disorders.International journal of molecular sciences · 2025Review
- Type I Sialidosis in a Chinese family: a case report and literature review.Acta epileptologica · 2025Article
- Type 2 Sialidosis: A Rare Autosomal Recessive Condition in a 13-Year-Old Male: A Case Report.Clinical case reports · 2025Article
- Genetic Insights and Clinical Implications ofGenes · 2025Review
- Gene therapy corrects the neurological deficits of mice with sialidosis.Gene therapy · 2024Article
- Juvenile sialidosis: a rare case and review of the literature.Annals of medicine and surgery (2012) · 2024Article
- Severe kidney dysfunction in sialidosis mice reveals an essential role for neuraminidase 1 in reabsorption.JCI insight · 2023Article
- Facial features of lysosomal storage disorders.Expert review of endocrinology & metabolism · 2022Article
- Article
- Clinical Exome Sequencing Enables Congenital Sialidosis Type II Diagnosis in Two Siblings Presenting with Unreported Clinical Features from a Rare Homozygous Sequence Variant p.(Tyr370Cys) inMolecular syndromology · 2021Article
- Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature.World journal of clinical cases · 2021Article
Corrections and comments
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Sialidosis, an autosomal recessive disorder, is characterized by progressive lysosomal storage of sialylated glycopeptides and oligosaccharides. It occurs as a result of biallelic mutations in the
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Registered trials
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