ArticleMedicine2017
Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype.
Article in Medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 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
15 citing papers in PubMed, 21 citations in OpenAlex.
- Current treatment status of fabry disease in South Korea: a longitudinal National health insurance service data-based study.Orphanet journal of rare diseases · 2025Article
- SD-OCT Imaging of Macular Changes in Fabry Disease: A Case Report.Neuro-ophthalmology (Aeolus Press) · 2024Article
- Sex Differences in Anderson-Fabry Cardiomyopathy: Clinical, Genetic, and Imaging Analysis in Women.Genes · 2023Article
- A questionnaire survey on the diagnosis and treatment of Fabry nephropathy in clinical practice.Kidney research and clinical practice · 2023Article
- All reported non-canonical splice site variants in GLA cause aberrant splicing.Clinical and experimental nephrology · 2023Article
- Management of Hypertension in Fabry Disease.Electrolyte & blood pressure : E & BP · 2023Review
- Diagnostic Yield of Genetic Testing in Young Patients With Atrioventricular Block of Unknown Cause.Journal of the American Heart Association · 2022Article
- Clinical Characteristics, Renal Involvement, and Therapeutic Options of Pediatric Patients With Fabry Disease.Frontiers in pediatrics · 2022Review
- Next-Generation Sequencing-Based Genetic Diagnostic Strategies of Inherited Kidney Diseases.Kidney diseases (Basel, Switzerland) · 2021Review
- The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.Molecular genetics & genomic medicine · 2021Review
- The Fabry disease-causing mutation, GLA IVS4+919G>A, originated in Mainland China more than 800 years ago.Journal of human genetics · 2020Article
- Impacts of AD-RelatedFrontiers in molecular neuroscience · 2020Article
- Retinal hyperreflective foci in Fabry disease.Orphanet journal of rare diseases · 2019Article
- Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease.Journal of human genetics · 2019Article
- Screening of family members of chronic kidney disease patients with Fabry disease mutations: a very important and underrated task.Jornal brasileiro de nefrologiaArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
21 authors at 15 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fabry disease is a rare X-linked lysosomal storage disorder caused by an α-galactosidase A deficiency. The progressive accumulation of globotriaosylceramide (GL-3) results in life-threatening complications, including renal, cardiac, and cerebrovascular diseases. This study investigated the phenotypic and molecular spectra of GLA mutations in Korean patients with Fabry disease using a nationwide survey.This study included 94 patients from 46 independent pedigrees: 38 adult males, 46 symptomatic females, and 10 pediatric males. Each diagnosis was based on an enzyme assay and GLA gene mutation analysis.The mean age at presentation was 24 years (range, 5-65 years); however, the diagnoses were delayed by 21 ± 19 years after the onset of symptoms. Those patients with late-onset Fabry disease were diagnosed by family screening or milder symptoms at a later age. Forty different mutations were identified: 20 missense (50%), 10 nonsense (25%), 8 frameshift (20%), and 2 splice site (5%) mutations. Five of them were novel. IVS4+919G>A (c.936+919 G>A) was not detected among the 6505 alleles via newborn screening using dried blood spots. Enzyme replacement therapy (ERT) was performed in all the males and pediatric patients, whereas 75% of the symptomatic females underwent ERT for 4.2 ± 3.6 years.This study described the demographic data, wide clinical spectrum of phenotypes, and GLA mutation spectrum of Fabry disease in Korea. Most of the patients had classical Fabry disease, with a 4 times higher incidence than that of late-onset Fabry disease, indicating an underdiagnosis of mild, late-onset Fabry disease.
Indexed as
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.