ArticleJournal of inherited metabolic disease2020
The definition of neuronopathic Gaucher disease.
Article in Journal of inherited metabolic disease, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 1 of them a synthesis that pooled it.
What it found
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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
48 citing papers in PubMed, 1 synthesis or guideline pooled it, 101 citations in OpenAlex.
- Genotype-phenotype correlations and mutation spectrum of GBA1 in Gaucher disease across Asian populations: a systematic review.Human genomics · 2026Pooled it
- 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
- Integrating Gaucher disease (GD) into mainstream hematological curriculum training.HemaSphere · 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
- Clinical and genetic landscape of neuronopathic gaucher disease in Ukraine: hepatosplenomegaly and diagnostic delay.Orphanet journal of rare diseases · 2026Article
- Repurposing Gaucher disease therapy for Saposin C deficiency: Proof-of-concept with eliglustat.Molecular genetics and metabolism · 2026Review
- Safety and Efficacy of Ambroxol Therapy in Polish Patients with Gaucher Disease.Life (Basel, Switzerland) · 2026Article
- The global impact of imiglucerase therapy in children with Gaucher disease types 1 and 3: a real-world analysis from the International Collaborative Gaucher Group Gaucher Registry.Orphanet journal of rare diseases · 2026Article
- Phenotypic Spectrum of Type 2-3 Gaucher Disease: A Case Study in the Balkan Genotype.The American journal of case reports · 2026Article
- Review
- AAV-mediated GBA1 and GDNF rescue neurological defects in a murine model of neuronopathic Gaucher disease.Molecular therapy. Nucleic acids · 2025Article
- Generation and Treatment of a Novel Severe Model of Visceral Gaucher Disease by Genetic Therapy.Pharmaceutics · 2025Article
- Gaucher disease type 3 from infancy through adulthood: a conceptual model of signs, symptoms, and impacts associated with ataxia and cognitive impairment.Orphanet journal of rare diseases · 2025Review
- Gaucher disease provides a unique window into Parkinson disease pathogenesis.Nature reviews. Neurology · 2024Review
- Comparison of different promoters to improve AAV vector-mediated gene therapy for neuronopathic Gaucher disease.Human molecular genetics · 2024Article
- Long- and Short-Term Glucosphingosine (lyso-Gb1) Dynamics in Gaucher Patients Undergoing Enzyme Replacement Therapy.Biomolecules · 2024Article
- Review
- GBA1 inactivation in oligodendrocytes affects myelination and induces neurodegenerative hallmarks and lipid dyshomeostasis in mice.Molecular neurodegeneration · 2024Article
- Lipids as Emerging Biomarkers in Neurodegenerative Diseases.International journal of molecular sciences · 2023Review
- Cancer Risk in Patients with Gaucher Disease Using Real-World Data.Journal of clinical medicine · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
21 authors at 18 institutions in 9 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neuronopathic Gaucher disease (nGD) has a very wide clinical and genotypic spectrum. However, there is no consensus definition of nGD, including no description of how best to diagnostically separate the acute form-Gaucher type 2-from the subacute or chronic form-Gaucher type 3. In this article, we define the various forms of Gaucher disease with particular emphasis on the presence of gaze palsy in all patients with nGD. This consensus definition will help in both clinical diagnosis and appropriate patient recruitment to upcoming clinical trials.
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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.