ArticleCold Spring Harbor molecular case studies2019
β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in
Article in Cold Spring Harbor molecular case studies, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 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
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
18 citing papers in PubMed, 23 citations in OpenAlex.
- Multi-scale analysis reveals key targets mediating BPA-induced sensorineural hearing loss.Medicine · 2026Article
- Identification of potential biomarkers related to mannose metabolism in keloids: analysis of integrated bulk RNA-seq and scRNA-seq.Frontiers in immunology · 2026Article
- Article
- Autophagy-lysosomal pathway in neurodegeneration.Molecular neurodegeneration advances · 2026Review
- Proteomics Combined with N-Glycoproteomics to Explore the Pathogenesis of Nasopharyngeal Carcinoma.Journal of proteome research · 2025Article
- Expanding the Phenotype Spectrum of β-Mannosidosis.Neurology. Genetics · 2025Article
- Next-Generation Sequencing in the Diagnostic Workup of Neonatal Dried Blood Spot Screening in Sweden 2015-2023.International journal of neonatal screening · 2025Article
- Article
- Review
- Accounting for cis-regulatory constraint prioritizes genes likely to affect species-specific traits.Genome biology · 2023Article
- SCP2 variant is associated with alterations in lipid metabolism, brainstem neurodegeneration, and testicular defects.Human genomics · 2022Article
- Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases.Biomedicines · 2022Review
- Update on Neuropathies in Inborn Errors of Metabolism.Brain sciences · 2021Review
- Oral manifestation and dental treatment of pediatric patient with beta-mannosidosis: A case report.SAGE open medical case reports · 2021Article
- Gene co-expression networks in peripheral blood capture dimensional measures of emotional and behavioral problems from the Child Behavior Checklist (CBCL).Translational psychiatry · 2020Article
- Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant.Orphanet journal of rare diseases · 2020Article
- Precision Medicine for Lysosomal Disorders.Biomolecules · 2020Review
- Familial Global Developmental Delay Secondary to β-Mannosidosis.Journal of pediatric neurosciencesArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
β-Mannosidosis is a lysosomal storage disorder characterized by accumulation of disaccharides due to deficiency of the lysosomal enzyme β-mannosidase. The disease is caused by mutations in
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.