ReviewPediatric endocrinology reviews : PER2014
Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history.
Review in Pediatric endocrinology reviews : PER, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 71 papers, 1 of them a synthesis 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
71 citing papers in PubMed, 1 synthesis or guideline pooled it, 115 citations in OpenAlex.
- Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1.Orphanet journal of rare diseases · 2022Guideline
- Pharmacokinetics, Pharmacodynamics, Safety, and Tolerability of Oral Venglustat in Healthy Volunteers.Clinical pharmacology in drug development · 2021Trial
- 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, biochemical and molecular spectrum of acute neuronopathic type 2 Gaucher disease from India.BMC pediatrics · 2026Article
- Glucosylsphingosine (Lyso-Gb1): An Update on Its Use as a Biomarker in Gaucher Disease.International journal of molecular sciences · 2026Review
- Transcriptomic signatures in Gaucher disease subtypes: A systems biology perspective.Molecular genetics and metabolism reports · 2025Article
- QSP-Copilot: An AI-Augmented Platform for Accelerating Quantitative Systems Pharmacology Model Development.CPT: pharmacometrics & systems pharmacology · 2025Article
- In silico biophysics and rheology of blood and red blood cells in Gaucher Disease.PLoS computational biology · 2025Article
- Hyperuricaemia in type 1 Gaucher disease: is uric acid a biomarker for disease severity?Internal medicine journal · 2025Article
- Event-based real-life outcomes of patients with non-neuronopathic Gaucher disease receiving ert.Orphanet journal of rare diseases · 2025Article
- Plant molecular farming: a promising frontier for orphan drug production.Biotechnology letters · 2025Review
- Identification of Novel Mutations in Patients Affected by Gaucher Disease.International journal of molecular sciences · 2025Article
- Enzyme replacement therapy in infants and very young children with Gaucher disease using velaglucerase alfa: a single-center experience.Frontiers in pediatrics · 2025Article
- Eliglustat and cardiac comorbidities in Gaucher disease: a pharmacogenomic approach to safety and efficacy.Frontiers in medicine · 2025Article
- UPLC-MS/MS High-Risk Screening for Sphingolipidoses Using Dried Urine Spots.Biomolecules · 2024Article
- In silico biophysics and rheology of blood and red blood cells in Gaucher Disease.bioRxiv : the preprint server for biology · 2024Article
- Changes in Angiogenesis and Bone Turnover Markers in Patients with Gaucher Disease Developing Osteonecrosis.Metabolites · 2024Article
- Non-neuronopathic Gaucher disease (Type I) in an elderly female: a case report.Annals of medicine and surgery (2012) · 2024Article
- Review
- Therapeutic delivery of recombinant glucocerebrosidase enzyme-containing extracellular vesicles to human cells from Gaucher disease patients.Orphanet journal of rare diseases · 2024Article
11 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
3 authors.
Funding
Abstract
Gaucher disease (GD), a prototype lysosomal storage disorder, results from inherited deficiency of lysosomal glucocerebrosidase due to biallelic mutations in GBA. The result is widespread accumulation of macrophages engorged with predominantly lysosomal glucocerebroside. A complex multisystem phenotype arises involving the liver, spleen, bone marrow and occasionally the lungs in type 1 Gaucher disease; in neuronopathic fulminant type 2 and chronic type 3 disease there is in addition progressive neurodegenerative disease. Manifestations of Gaucher disease type 1 (GD1) include hepatosplenomegaly, cytopenia, a complex pattern of bone involvement with avascular osteonecrosis (AVN), osteoporosis, fractures and lytic lesions. Enzyme replacement therapy became the standard of care in 1991, and this has transformed the natural history of GD1. This article reviews the clinical phenotypes of GD, diagnosis, pathophysiology and its natural history. A subsequent chapter discusses the treatment options.
Indexed as
Identifiers
25345088PMC4520262W161678600What 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.