ArticleJIMD reports2013
Quality of life of brazilian patients with Gaucher disease and fabry disease.
Article in JIMD reports, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 4 of them syntheses that pooled it.
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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
15 citing papers in PubMed, 4 syntheses or guidelines pooled it, 26 citations in OpenAlex.
- Patient-reported outcomes in Gaucher's disease: a systematic review.Orphanet journal of rare diseases · 2023Pooled it
- Fabry disease and sleep disorders: a systematic review.Frontiers in neurology · 2023Pooled it
- Quality of life in patients with Fabry disease: a systematic review of the literature.Orphanet journal of rare diseases · 2015Pooled it
- Fabry disease cardiomyopathy: A state-of-the-art review.Progress in cardiovascular diseasesPooled it
- 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
- Event-based real-life outcomes of patients with non-neuronopathic Gaucher disease receiving ert.Orphanet journal of rare diseases · 2025Article
- The Uneven Effect of Rare Diseases on Functional Status and Work Capacity.Healthcare (Basel, Switzerland) · 2025Article
- Development and validation of Gaucher disease type 1 (GD1)-specific patient-reported outcome measures (PROMs) for clinical monitoring and for clinical trials.Orphanet journal of rare diseases · 2022Article
- Health-related quality of life in Norwegian adults with Fabry disease: Disease severity, pain, fatigue and psychological distress.JIMD reports · 2021Article
- Histomorphometric analysis of liver biopsies of treated patients with Gaucher disease type 1.Autopsy & case reports · 2021Article
- Depression, sleep disturbances, pain, disability and quality of LIFE in Brazilian Fabry disease patients.Molecular genetics and metabolism reports · 2020Article
- Liver involvement in patients with Gaucher disease types I and III.Molecular genetics and metabolism reports · 2020Article
- Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review.Orphanet journal of rare diseases · 2018Article
- Health-related quality of life in children and adolescents living with Gaucher disease and their parents.Health psychology and behavioral medicine · 2018Article
- Improvement of life quality measured by Lansky Score after enzymatic replacement therapy in children with Gaucher disease type 1.Molecular genetics & genomic medicine · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo evaluate QoL in a sample of Brazilian patients with Gaucher (GD) and Fabry (FD) disease using the SF-36 survey.
methodObservational cross-sectional study. The SF-36 survey was administered to cognitively able patients 12 years or older, who were seen in the Medical Genetics Service of Hospital de Clínicas de Porto Alegre, Brazil.
resultsThirty-five patients were included in the study (GD = 21, FD = 14), mean age was 29.8 ± 14.2 years and 29 (82.9%) were receiving ERT. Patients with GD receiving ERT had better scores in the general health (p = 0.046) domain of the SF-36 than patients with FD receiving ERT. Comparison of patients with GD naive to ERT and those receiving ERT revealed differences only in the bodily pain domain (p = 0.036). The Zimran score showed a moderate negative correlation with the following domains of the SF-36: physical functioning (p = 0.035), role-physical (p = 0.036), general health (p = 0.023) and role emotional (p = 0.021). DISCUSSION AND
conclusionAlthough limited because of the small number of patients included, findings suggest that patients with GD receiving ERT have a better QoL than patients with FD or with GD not receiving ERT. Imiglucerase has a beneficial effect against pain for patients with GD. Further studies should be conducted to confirm our findings.
Identifiers
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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.