ArticleAmerican journal of hematology2011
A reappraisal of Gaucher disease-diagnosis and disease management algorithms.
Article in American journal of hematology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers, 2 of them syntheses that pooled it.
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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
75 citing papers in PubMed, 2 syntheses or guidelines pooled it, 187 citations in OpenAlex.
- Gaucher: A Systematic Review on Oral and Radiological Aspects.Medicina (Kaunas, Lithuania) · 2023Pooled it
- Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative.Internal medicine journal · 2019Guideline
- 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
- Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia.Scientific reports · 2021Trial
- Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.American journal of hematology · 2017Trial
- Diagnostic Delay in Gaucher Disease and the Role of Gastroenterology in the Diagnostic Journey: A Real-World Cohort Study.Journal of clinical medicine · 2026Article
- 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
- 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
- Gaucher disease: the hematologist's perspective of a multisystemic disorder.Annals of hematology · 2026Review
- Family studies in Gaucher Disease: a key resource for early diagnosis and personalized treatment strategies.Orphanet journal of rare diseases · 2026Article
- Exploring delayed diagnosis in Gaucher disease: insights from a community survey and potential solutions.Orphanet journal of rare diseases · 2026Article
- French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher disease.Orphanet journal of rare diseases · 2025Review
- Gaucher disease, state of the art and perspectives.Journal of internal medicine · 2025Review
- Hyperuricaemia in type 1 Gaucher disease: is uric acid a biomarker for disease severity?Internal medicine journal · 2025Article
- SplenoMegaly study (SMS): exploring the etiologies for "unexplained" splenomegalies in the real world.Orphanet journal of rare diseases · 2025Observational
- Modeling bone marrow microenvironment and hematopoietic dysregulation in Gaucher disease through VavCre mediated Gba deletion.Human molecular genetics · 2025Article
- Identification of Novel Mutations in Patients Affected by Gaucher Disease.International journal of molecular sciences · 2025Article
- Clinical Outcomes and Genetic Mutations in Turkish Patients with Type 1 Gaucher Disease: Insights from a Single-Center Study.Journal of personalized medicine · 2025Article
- Liver involvement in Gaucher disease type I: a retrospective single-center study from Ukraine.Frontiers in medicine · 2025Article
- Precision genomic profiling in Gaucher disease: insights from atypical presentations.Frontiers in genetics · 2025Article
15 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
11 authors at 9 institutions in 8 countries.
Funding
Abstract
Type 1 (non-neuronopathic) Gaucher disease was the first lysosomal storage disorder for which an effective enzyme replacement therapy was developed and it has become a prototype for treatments for related orphan diseases. There are currently four treatment options available to patients with Gaucher disease, nevertheless, almost 25% of Type 1 Gaucher patients do not gain timely access to therapy because of delays in diagnosis after the onset of symptoms. Diagnosis of Gaucher disease by enzyme testing is unequivocal, but the rarity of the disease and nonspecific and heterogeneous nature of Gaucher disease symptoms may impede consideration of this disease in the differential diagnosis. To help promote timely diagnosis and optimal management of the protean presentations of Gaucher disease, a consensus meeting was convened to develop algorithms for diagnosis and disease management for Gaucher disease.
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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.