ArticleExpert opinion on orphan drugs2017
Galactosialidosis: historic aspects and overview of investigated and emerging treatment options.
Article in Expert opinion on orphan drugs, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 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
23 citing papers in PubMed, 42 citations in OpenAlex.
- Phenotypic Divergence in Siblings with the Same Genotype: Diffuse Dermal Melanocytosis in Infantile-Onset Galactosialidosis.Molecular syndromology · 2026Article
- Review
- Autophagy-lysosomal pathway in neurodegeneration.Molecular neurodegeneration advances · 2026Review
- Decoding sialidase: physiological roles, pathological pathways, and clinical opportunities.Frontiers in cellular and infection microbiology · 2026Review
- Juvenile/adult-type galactosialidosis with a homozygous CTSA variant without consanguinity.Human genome variation · 2025Article
- Sialidases as Potential Therapeutic Targets for Treatment of a Number of Human Diseases.International journal of molecular sciences · 2025Review
- Novel CTSA Variant Identified in a Thai Family With Late-Infantile Galactosialidosis.Annals of human genetics · 2025Article
- Galactosialidosis: A Report of Three Cases Diagnosed With a Founder Genetic Mutation in the Bahraini Population.Cureus · 2025Article
- AAV-mediated gene therapy for sialidosis.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- Structure of the immunoregulatory sialidase NEU1.Science advances · 2023Article
- Facial features of lysosomal storage disorders.Expert review of endocrinology & metabolism · 2022Article
- AAV-mediated gene therapy for galactosialidosis: A long-term safety and efficacy study.Molecular therapy. Methods & clinical development · 2021Article
- 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
- A sialidosis type I cohort and a quantitative approach to multimodal ophthalmic imaging of the macular cherry-red spot.The British journal of ophthalmology · 2021Article
- Galactosialidosis: preclinical enzyme replacement therapy in a mouse model of the disease, a proof of concept.Molecular therapy. Methods & clinical development · 2021Article
- Sialylation of host proteins as targetable risk factor for COVID-19 susceptibility and spreading: A hypothesis.FASEB bioAdvances · 2021Article
- Lipophagy and Lipolysis Status in Lipid Storage and Lipid Metabolism Diseases.International journal of molecular sciences · 2020Review
- Review
- Cathepsins in the Pathophysiology of Mucopolysaccharidoses: New Perspectives for Therapy.Cells · 2020Review
- Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I.Journal of clinical medicine · 2020Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
introductionGalactosialidosis is a glycoprotein storage disease caused by mutations in the AREAS COVERED: This review gives a historic overview on the discovery of PPCA, which defined galactosialidosis as a new clinical entity; the evidence for the existence of the PPCA/NEU1/β-GAL complex; the clinical forms of galactosialidosis and disease-causing EXPERT OPINION: Improved understanding of the molecular bases of disease has sparked renewed incentive from clinicians and scientists alike to develop therapies for rare conditions, like GS, and has increased the willingness of biotech companies to invest in the manufacturing of new therapeutics. Both ERT and gene therapy may become available to patients in the near future.
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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.