ReviewInternational journal of molecular sciences2017
A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments.
Review in International journal of molecular sciences, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06814431 (Study on the Incidence of Malignant Neoplasms in Patients With Parkinson's Disease and Heterozygous Mutation of the GBA Gene), which is not on this map. Cited by 427 papers, 4 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Study on the Incidence of Malignant Neoplasms in Patients With Parkinson's Disease and Heterozygous Mutation of the GBA Gene
Who cites it
427 citing papers in PubMed, 4 syntheses or guidelines pooled it, 843 citations in OpenAlex.
- Genotype-phenotype correlations and mutation spectrum of GBA1 in Gaucher disease across Asian populations: a systematic review.Human genomics · 2026Pooled it
- Investigating the therapeutic profile of velaglucerase alfa in paediatric patients with Gaucher disease: a systematic review across all paediatric age groups.Orphanet journal of rare diseases · 2026Pooled it
- Neurological symptoms in adults with Gaucher disease: a systematic review.Journal of neurology · 2024Pooled it
- Cross-phenotype association analysis of gastric cancer: in-silico functional annotation based on the disease-gene network.Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association · 2023Pooled it
- A Randomized, Double-Blind, 2-Treatment, 2-Period, Crossover Phase 1 Study to Compare the Pharmacokinetics, Safety and Tolerability of 60 IU/Kg of Abcertin and Cerezyme in Healthy Volunteers Following a Single Intravenous Administration.Molecular genetics & genomic medicine · 2025Trial
- Qualitative Study of the Patient Experience with Venglustat for Gaucher Disease Type 3 in a Phase 2 Open-Label, Multicenter, Multinational Study (LEAP).Advances in therapy · 2024Trial
- New insights into bone pathology through a transcriptomic profiling of an osteoblast model of Gaucher disease.Molecular genetics and metabolism reports · 2026Article
- Computational evaluation of EPA-PC binding to GCase in neuronopathic Gaucher disease.Current research in structural biology · 2026Article
- Clustering of host N-glycans by the microneme MIC1/4/6 complex licenses Toxoplasma rhoptry discharge.The EMBO journal · 2026Article
- Applying a Pareto-Based Efficiency Frontier to Inform Value-Based Pricing for Gaucher Disease Therapies in Brazil.Pharmacoepidemiology and drug safety · 2026Article
- Generation and Characterization of an Osteoclastic Cell Model of Gaucher's Bone Disease.Calcified tissue international · 2026Article
- Plant-Based Systems for Producing Therapeutic Proteins: Current Status and Future Prospects.BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy · 2026Review
- 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
- Isomer-Resolved Mass Spectrometry Imaging Reveals Regional and Age-Dependent Glycolipid Metabolism in Rat Brain.ACS central science · 2026Article
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- Roles of Ceramide Glucosyltransferase in Controlling Cerebral Microvascular Endothelial Integrity and Angiogenesis Post-Ischemia/Reperfusion.Translational stroke research · 2026Article
- Diagnostic Challenge of Pediatric Gaucher Disease in a Low-Resource South Asian Setting: A Case Report.Clinical case reports · 2026Article
- Understanding the genetic imperfections of Lewy body dementia.Molecular neurodegeneration · 2026Review
- persistent pain and fatigue drive reduced quality of life in treated Gaucher disease type 1: a cross-sectional analysis.Orphanet journal of rare diseases · 2026Article
367 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 9 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an accumulation of its substrate, glucosylceramide, in macrophages. In the general population, its incidence is approximately 1/40,000 to 1/60,000 births, rising to 1/800 in Ashkenazi Jews. The main cause of the cytopenia, splenomegaly, hepatomegaly, and bone lesions associated with the disease is considered to be the infiltration of the bone marrow, spleen, and liver by Gaucher cells. Type-1 Gaucher disease, which affects the majority of patients (90% in Europe and USA, but less in other regions), is characterized by effects on the viscera, whereas types 2 and 3 are also associated with neurological impairment, either severe in type 2 or variable in type 3. A diagnosis of GD can be confirmed by demonstrating the deficiency of acid glucocerebrosidase activity in leukocytes. Mutations in the
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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.