ReviewJournal of internal medicine2025
Gaucher disease, state of the art and perspectives.
Review in Journal of internal medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
11 citing papers in PubMed.
- Delayed Diagnosis of Type 1 Gaucher Disease at Age 15 After Years of Mild Cytopenias and Splenomegaly: A Case Report and Long-Term Follow-Up.The American journal of case reports · 2026Article
- Clinical and genetic landscape of neuronopathic gaucher disease in Ukraine: hepatosplenomegaly and diagnostic delay.Orphanet journal of rare diseases · 2026Article
- From Lysosomal Storage to Neurodegeneration: Sphingolipid Signaling as a Driver of CNS Pathology and Biomarker Strategy in Neuronopathic Gaucher Disease.International journal of molecular sciences · 2026Review
- Transcriptomic Profiling of Monozygotic Twins with Type 1 Gaucher Disease.Life (Basel, Switzerland) · 2026Article
- Pathological Protein Targets in Parkinson's Disease: Progress Towards the Development of Disease-Modifying Therapies.CNS drugs · 2026Review
- Real-World Effectiveness and Safety of Eliglustat in Adult Patients with Gaucher Disease Type 1: A Multicenter Retrospective Study in China.Journal of clinical medicine · 2026Article
- Sphingolipid metabolism and hematologic disorders: current understanding and future directions.Frontiers in physiology · 2026Review
- Adverse events signals of enzyme replacement drugs of Gaucher disease: insights from FAERS database analysis.Frontiers in medicine · 2026Article
- Genomic Structural Equation Modeling Provides an Initial View of the Genetic Architecture Related to Type 1 Gaucher Disease.Human mutation · 2026Article
- Microbiome-gut-heart axis in cardiac complications of Gaucher disease type 3.Annals of medicine and surgery (2012) · 2025Article
- Gaucher disease, state of the art and perspectives.Journal of internal medicine · 2025Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Knowledge about Gaucher disease (GD), considered a model for rare diseases, has considerably increased since its discovery. The pathophysiology of this lysosomal disorder is better known, and specific therapies that can control many aspects of the disease have been developed, particularly for the most common form, Type 1 GD. Yet, in part because of the rarity of GD, but also because of a lack of awareness by physicians, diagnostic delay too often leads to a belated management of patients having accumulated comorbidities. Gaucher cells, the most visible consequence of glucocerebrosidase deficiency, have been known for many years. However, the pathophysiological mechanisms underlying some major lesions, such as bone disease, predisposition to Parkinson's disease in Type 1 GD, or neurological involvement in Type 2 and Type 3 GD, remain poorly understood. Diagnostic, therapeutic, and follow-up issues associated with these symptoms remain critical to optimize the care of these patients. In this review, clinical characteristics, pathophysiology, diagnosis, treatment, and prognosis of GD are successively considered, highlighting for each of them the remaining challenges. Continued efforts to better understand pathophysiological mechanisms, use of the most modern methods such as artificial intelligence, international collaboration, and development of new therapeutic strategies seem essential for the future of this rare disease.
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What Socratic 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 Socratic graph.