Trial reportScientific reports2021
Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia.
Trial report in Scientific reports, 2021. 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed, 26 citations in OpenAlex.
- Gaucher disease: the hematologist's perspective of a multisystemic disorder.Annals of hematology · 2026Review
- Early Diagnosis of Gaucher Disease and ASMD in Sardinia: The "Ichnos" Project.Mediterranean journal of hematology and infectious diseases · 2026Article
- Review
- French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher disease.Orphanet journal of rare diseases · 2025Review
- SplenoMegaly study (SMS): exploring the etiologies for "unexplained" splenomegalies in the real world.Orphanet journal of rare diseases · 2025Observational
- Study of Adult and Pediatric Spanish Patients with Cryptogenic Splenomegaly and Splenectomy.Diseases (Basel, Switzerland) · 2025Article
- Enzyme replacement therapy improves erythropoiesis and iron dysregulation in Gaucher disease.Annals of hematology · 2024Article
- Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential Diagnosis.Journal of clinical medicine · 2024Article
- Blood cytopenias as manifestations of inherited metabolic diseases: a narrative review.Orphanet journal of rare diseases · 2024Review
- The Etiologic Landscape of Lymphoproliferation in Childhood: Proposal for a Diagnostic Approach Exploring from Infections to Inborn Errors of Immunity and Metabolic Diseases.Therapeutics and clinical risk management · 2024Review
- Development of a rare disease algorithm to identify persons at risk of Gaucher disease using electronic health records in the United States.Orphanet journal of rare diseases · 2023Article
- GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia.Orphanet journal of rare diseases · 2023Article
- Screening for potential undiagnosed Gaucher disease patients: Utilisation of the Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS) in conjunction with electronic health record data, tissue specimens, and small nucleotide polymorphism (SNP) genotype data available in Finnish biobanks.Molecular genetics and metabolism reports · 2022Article
- Targeting the Complement-Sphingolipid System in COVID-19 and Gaucher Diseases: Evidence for a New Treatment Strategy.International journal of molecular sciences · 2022Review
- Article
- Early diagnosis of Gaucher disease in Korean patients with unexplained splenomegaly: a multicenter observational study.Blood research · 2022Article
- C-X-C Motif Chemokine Ligand 9 and Its CXCR3 Receptor Are the Salt and Pepper for T Cells Trafficking in a Mouse Model of Gaucher Disease.International journal of molecular sciences · 2021Article
- Confounding factors in the diagnosis and clinical course of rare congenital hemolytic anemias.Orphanet journal of rare diseases · 2021Review
Corrections and comments
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Authors and funding
15 authors at 17 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hematologists are frequently involved in the diagnostic pathway of Gaucher disease type 1 (GD1) patients since they present several hematological signs. However, GD1 is mainly underdiagnosed because of a lack of awareness. In this multicenter study, we combine the use of a diagnostic algorithm with a simple test (β-glucosidase activity on Dried Blood Spot) in order to facilitate the diagnosis in a population presenting to the hematologist with splenomegaly and/or thrombocytopenia associated with other hematological signs. In this high-risk population, the prevalence of GD1 is 3.3%. We propose an equation that predicts the probability of having GD1 according to three parameters that are routinely evaluated: platelet count, ferritin, and transferrin saturation.
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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.