ReviewTranslational pediatrics2016
Paediatric Fabry disease.
Review in Translational pediatrics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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
17 citing papers in PubMed, 28 citations in OpenAlex.
- Long-term effectiveness and safety outcomes in adults with Fabry disease treated with agalsidase alfa: 20 years of data from the Fabry Outcome Survey.European journal of clinical investigation · 2026Observational
- Exosome-Based Proteomic Profiling for Biomarker Discovery in Pediatric Fabry Disease: Insights into Early Diagnosis Monitoring.Biomedicines · 2025Article
- Congenital and Neonatal Skin Disorders: Histopathological Diagnosis and Syndromic Associations.Cureus · 2025Review
- The unlikely combination: Anderson-Fabry disease and congenital dyserythropoietic anemia type II in a pediatric patient.Clinical case reports · 2024Article
- Long-term safety of enzyme replacement therapy with agalsidase alfa in patients with Fabry disease: post-marketing extension surveillance in Japan.Molecular genetics and metabolism reports · 2024Article
- Flow Cytometry-Based Assay to Detect Alpha Galactosidase Enzymatic Activity at the Cellular Level.Cells · 2024Article
- Genotype-Phenotype Correlations in 293 Russian Patients with Causal Fabry Disease Variants.Genes · 2023Article
- Palm-Plant Pain, Sign of a Severe Systemic Disease? Case Report and Review of Literature.Genes · 2023Review
- Gut dysmotility in children with neurological impairment: the nutritional management.Frontiers in neurology · 2023Review
- Fabry Disease: Current and Novel Therapeutic Strategies. A Narrative Review.Current neuropharmacology · 2023Review
- A teenager with painful extremities.Paediatrics & child health · 2022Article
- Do clinical guidelines facilitate or impede drivers of treatment in Fabry disease?Orphanet journal of rare diseases · 2022Article
- Left to themselves: Time to target chronic pain in childhood rare diseases.Neuroscience and biobehavioral reviews · 2021Review
- Retinal hyperreflective foci in Fabry disease.Orphanet journal of rare diseases · 2019Article
- Proteinuria in a male adolescent with hearing loss: Answers.Pediatric nephrology (Berlin, Germany) · 2018Article
- Auditing the frequency and the clinical and economic impact of testing for Fabry disease in patients under the age of 70 with a stroke admitted to Saint Vincent's University Hospital over a 6-month period.Irish journal of medical science · 2018Article
- Prevalence of Kidney and Urinary Tract Complications in Fabry Disease from 2000 to 2020: A Global Cohort Study Including 10,637 Patients.In vivo (Athens, Greece)Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fabry disease is a rare, progressive X-linked inborn error of the glycosphingolipid metabolic pathway. Mutations of the GLA gene result in deficiency of the lysosomal enzyme, α-galactosidase A (α-Gal A) with accumulation of glycosphingolipids, particularly globotriaosylceramide (GL3) in the vascular endothelium of various tissues. Accumulation of GL3 eventually leads to life threatening renal, cardiac and cerebrovascular complications typically in the third to fifth decades of life. The first signs and symptoms of classic Fabry disease however appear in childhood but diagnosis is often delayed. The symptoms most commonly experienced in childhood include neuropathic pain, gastrointestinal dysfunction, hyperhidrosis and heat intolerance. Timely diagnosis is important as early treatment with enzyme replacement therapy reduces GL3 accumulation, can stabilize disease progression and potentially prevent irreversible organ damage. Physicians should be familiar with the signs and symptoms of Fabry disease in childhood and be particularly vigilant for unusual or non-specific but recurrent or episodic symptoms.
Indexed as
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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.