ReviewIranian journal of child neurology2019
Gaucher Disease: New Expanded Classification Emphasizing Neurological Features.
Review in Iranian journal of child neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.
- Neurodevelopmental Clues to Neurodegeneration.Pediatric neurology · 2021Pooled it
- Repurposing Gaucher disease therapy for Saposin C deficiency: Proof-of-concept with eliglustat.Molecular genetics and metabolism · 2026Review
- Case Report: From suspected congenital rubella to a lysosomal storage disorder-diagnostic challenges in a neonate with findings strongly suggestive of Gaucher disease.Frontiers in pediatrics · 2026Article
- Genomic Structural Equation Modeling Provides an Initial View of the Genetic Architecture Related to Type 1 Gaucher Disease.Human mutation · 2026Article
- Review
- Late-onset Myoclonic Seizure in a 78-year-old Woman with Gaucher Disease.Internal medicine (Tokyo, Japan) · 2024Article
- GBA1 inactivation in oligodendrocytes affects myelination and induces neurodegenerative hallmarks and lipid dyshomeostasis in mice.Molecular neurodegeneration · 2024Article
- Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study.Biomedicines · 2023Article
- The Biology of Lysosomes: From Order to Disorder.Biomedicines · 2023Review
- Serum Phospholipid Profile Changes in Gaucher Disease and Parkinson's Disease.International journal of molecular sciences · 2022Article
- Deep phenotyping for precision medicine in Parkinson's disease.Disease models & mechanisms · 2022Article
- A new brain-penetrant glucosylceramide synthase inhibitor as potential Therapeutics for Gaucher disease.Journal of neurochemistry · 2021Article
- The Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS): Evaluation of a prototype in Finnish Gaucher disease patients and feasibility of screening retrospective electronic health record data for the recognition of potential undiagnosed patients in Finland.Molecular genetics and metabolism reports · 2021Article
- Elevated Dkk1 Mediates Downregulation of the Canonical Wnt Pathway and Lysosomal Loss in an iPSC Model of Neuronopathic Gaucher Disease.Biomolecules · 2020Article
- Mass Spectrometry Evaluation of Biomarkers in the Vitreous Fluid in Gaucher Disease Type 3 with Disease Progression Despite Long-Term Treatment.Diagnostics (Basel, Switzerland) · 2020Article
- A case of motor neuron involvement in Gaucher disease.Molecular genetics and metabolism reports · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Gaucher disease (GD) is a rare inherited metabolic disorder and the most common lysosomal storage disorder, caused by a deficiency in glucocerebrosidase enzyme activity. It has been classified according to the neurological manifestations into three types: type 1, without neuropathic findings, type 2 with acute infantile neuropathic signs and type 3 or chronic neuropathic form. However, report of new variants has led to the expansion of phenotype as a clinical phenotype of GD considered as a continuum of phenotypes. Therefore, it seems that a new classification is needed to cover new forms of the disease.
Indexed as
Identifiers
30598670PMC6296697W2910155310What OpenQuestion 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 OpenQuestion graph.