ArticleExpert review of endocrinology & metabolism2022
Facial features of lysosomal storage disorders.
Article in Expert review of endocrinology & metabolism, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 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
6 citing papers in PubMed, 4 citations in OpenAlex.
- Naturally occurring lysosomal storage disease consistent with neuronal ceroid lipofuscinosis in a group of 5 related captive rhesus macaques (Veterinary pathology · 2026Article
- Adult disease burden in patients with mucopolysaccharidosis type I H (Hurler syndrome): A comprehensive literature review with patient case analysis.Molecular genetics and metabolism reports · 2026Review
- Artificial Intelligence, Connected Care, and Enabling Digital Health Technologies in Rare Diseases With a Focus on Lysosomal Storage Disorders: Scoping Review.Journal of medical Internet research · 2026Article
- Explainable AI-driven graph-based neural networks for mucopolysaccharidoses diagnosis.BioData mining · 2026Article
- Applying artificial intelligence to rare diseases: a literature review highlighting lessons from Fabry disease.Orphanet journal of rare diseases · 2025Review
- The diagnosis and management of mucopolysaccharidosis type II.Italian journal of pediatrics · 2024Review
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
introductionThe use of facial recognition technology has diversified the diagnostic toolbelt for clinicians and researchers for the accurate diagnoses of patients with rare and challenging disorders. Specific identifiers in patient images can be grouped using artificial intelligence to allow the recognition of diseases and syndromes with similar features. Lysosomal storage disorders are rare, and some have prominent and unique features that may be used to train the accuracy of facial recognition software algorithms. Noteworthy features of lysosomal storage disorders (LSDs) include facial features such as prominent brows, wide noses, thickened lips, mouth, and chin, resulting in coarse and rounded facial features. AREAS COVERED: We evaluated and report the prevalence of facial phenotypes in patients with different LSDs, noting two current examples when artificial intelligence strategies have been utilized to identify distinctive facies. EXPERT OPINION: Specific LSDs, including Gaucher disease, Mucolipidosis IV and Fabry disease have recently been distinguished using facial recognition software. Additional lysosomal disorders LSDs lysosomal storage disorders with unique and distinguishable facial features also merit evaluation using this technology. These tools may ultimately aid in the identification of specific LSDs and shorten the diagnostic odyssey for patients with these rare and under-recognized disorders.
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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.