ArticleMolecular genetics & genomic medicine2020
Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screening.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.
- Fabry disease and sleep disorders: a systematic review.Frontiers in neurology · 2023Pooled it
- Newborn screening for Fabry disease in Japan: an additional 3-year report.Molecular genetics and metabolism reports · 2026Article
- Expert opinion on facilitating intrafamily communication in rare diseases-Lessons from Fabry disease.Genetics in medicine open · 2026Article
- Evaluation ofMolecular genetics and metabolism reports · 2025Article
- Two decades of experience of the Fabry Outcome Survey provides further confirmation of the long-term effectiveness of agalsidase alfa enzyme replacement therapy.Molecular genetics and metabolism reports · 2025Article
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Article
- High-risk screening for Fabry disease in hemodialysis patients in Chiba Prefecture, Japan.Clinical and experimental nephrology · 2023Article
- Association of Fabry Disease with Hearing Loss, Tinnitus, and Sudden Hearing Loss: A Nationwide Population-Based Study.Journal of clinical medicine · 2022Article
- Renoprotective Effect of Agalsidase Alfa: A Long-Term Follow-Up of Patients with Fabry Disease.Journal of clinical medicine · 2022Article
- Clinical Characteristics, Renal Involvement, and Therapeutic Options of Pediatric Patients With Fabry Disease.Frontiers in pediatrics · 2022Review
- High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.Diagnostics (Basel, Switzerland) · 2021Review
- Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screening.Molecular genetics & genomic medicine · 2020Article
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Authors and funding
9 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundIn Japan, newborn and high-risk screening for Fabry disease (FD), an inherited X-linked disorder caused by GLA mutations, using dried blood spots was initiated in 2006. In newborn screening, 599,711 newborns were screened by December 2018, and 57 newborns from 54 families with 26 FD-associated variants were detected. In high-risk screening, 18,235 individuals who had symptoms and/or a family history of FD were screened by March 2019, and 236 individuals from 143 families with 101 FD-associated variants were detected. Totally 3, 116 variants were detected; 41 of these were not registered in Fabry-database.org or ClinVar and 33 were definitely novel. Herein, we report the clinical outcomes and discuss the pathogenicity of the 41 variants.
methodsWe traced nine newborns and 46 individuals with the 33 novel variants, and nine newborns and 10 individuals with eight other variants not registered in the FD database, and analyzed the information on symptoms, treatments, and outcomes.
resultsThirty-eight of the 46 individuals with the 33 novel variants showed symptoms and received enzyme-replacement therapy and/or chaperone treatment.
conclusionDelayed diagnosis should be avoided in patients with FD. Our results will help clinicians diagnose FD and determine the appropriate treatment for patients with these variants.
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