ArticleGastroenterology research and practice2016
Gastrointestinal Symptoms of Patients with Fabry Disease.
Article in Gastroenterology research and practice, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 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.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- Pooled it
- Targeted questionnaires improve detection of early gastrointestinal symptoms in young children with Fabry disease.Orphanet journal of rare diseases · 2026Article
- Gastrointestinal symptoms in adults with Fabry disease and their associations with physical and mental health.BMC gastroenterology · 2025Article
- Phenotypic Evolution in Fabry Disease: Our Experience in Indian Cohort.Indian journal of clinical biochemistry : IJCB · 2025Article
- Understanding and modifying Fabry disease: Rationale and design of a pivotal Phase 3 study and results from a patient-reported outcome validation study.Molecular genetics and metabolism reports · 2022Article
- Health-related quality of life in Norwegian adults with Fabry disease: Disease severity, pain, fatigue and psychological distress.JIMD reports · 2021Article
- Gastrointestinal Manifestations in Mucopolysaccharidosis Type III: Review of Death Certificates and the Literature.Journal of clinical medicine · 2021Article
- Review
- Fabry disease: what the cardiologist should consider in non-cardiac screening, diagnosis, and management-narrative review.Cardiovascular diagnosis and therapy · 2021Review
- Gastrointestinal Involvement in Anderson-Fabry Disease: A Narrative Review.International journal of environmental research and public health · 2021Review
- Clinical-Pathological Conference Series from the Medical University of Graz : Case No 153: A 55-year-old woman with atypical multiple sclerosis and irritable bowel syndrome.Wiener klinische Wochenschrift · 2018Article
- Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry.JIMD reports · 2018Article
- Genetic variants associated with Fabry disease progression despite enzyme replacement therapy.Oncotarget · 2017Article
- Article
- Understanding the gastrointestinal manifestations of Fabry disease: promoting prompt diagnosis.Therapeutic advances in gastroenterology · 2016Review
- Increased expression of Trpv1 in peripheral terminals mediates thermal nociception in Fabry disease mouse model.Molecular pain · 2016Article
- Review
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In order to characterize gastrointestinal (GI) symptoms of 50 patients with Fabry disease (FD) (22 M; age range: 4-70 y; 35 adults and 15 children), validated questionnaires of GI symptoms were used to diagnose the functional gastrointestinal disorders (FGIDs) of the patients with GI symptoms (33/50 (66%); 25/35 adults and 8/15 children) according to Rome III criteria. In 16/25 of these adults and 2/8 of these children, the symptoms mimicked FGID. The adult subgroup included patients with unspecified functional bowel disorder (n = 9), functional bloating (n = 7), and IBS (n = 5), and the child subgroup included patients with abdominal migraine (n = 1) and IBS (n = 1). Among the 25 adults, 14 reported feeling full after a regular-size meal, and 12 complained of abdominal bloating/distension. All of the children with GI symptoms complained of low abdominal pain associated with changes in the form of the stool/improvements with defecation. In conclusion, according to Rome III criteria, the most frequent diagnoses of FGID among the adults with FD were unspecified functional bowel disorder, followed by functional bloating and IBS. The most frequent GI symptom in the children in our population was IBS-like abdominal pain, while the adults exhibited a full feeling following a regular-size meal and abdominal bloating/distension.
Identifiers
What 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.