ArticleMolecular genetics and metabolism reports2020
Newborn screening for Fabry disease in the western region of Japan.
Article in Molecular genetics and metabolism reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 1 of them a synthesis that pooled it.
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Who cites it
50 citing papers in PubMed, 1 synthesis or guideline pooled it, 69 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
- Clinical and Biochemical Improvement After Switching From Agalsidase Alfa to Beta in a Boy With Classic Fabry Disease: A Case Report.Clinical case reports · 2026Article
- Real world outcomes of Fabry disease in Italian excellence centers: the ground study.Orphanet journal of rare diseases · 2026Observational
- T-Cell Receptor Excision Circle/Kappa-Deleting Recombination Excision Circle-Based Newborn Screening Program for Severe Combined Immunodeficiency in Kumamoto, Japan.Cell biochemistry and biophysics · 2026Article
- Sex-Based Disparities in Fabry Disease Cause Challenges in Newborn Screening.Public health genomics · 2026Article
- Genome sequencing reveals the prevalence of Fabry disease-causing variants in Japan: Evidence from the Tohoku Medical Megabank.Genetics in medicine open · 2026Article
- Evaluation ofMolecular genetics and metabolism reports · 2025Article
- Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy.Orphanet journal of rare diseases · 2025Article
- Competent expression of effective and long-acting human α-Gal A-Fc fusion protein in the milk of transgenic mice.Transgenic research · 2025Article
- Exploring the burdens of women living with Fabry disease in Japan: A patient survey of 62 respondents.Molecular 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
- Fabry disease in the haemodialysis population: outcome of a UK screening study (SoFAH).BMC nephrology · 2025Article
- Screening for Fabry disease in patients with hypertrophic cardiomyopathy using cardiac magnetic resonance imaging.European radiology · 2025Article
- Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.International journal of molecular sciences · 2025Article
- Cryo-ablation management of atrial fibrillation in Fabry disease without agalsidase alpha: a case report.Frontiers in cardiovascular medicine · 2025Article
- Effectiveness and safety of enzyme replacement therapy in the treatment of Fabry disease: a Chinese monocentric real-world study.Orphanet journal of rare diseases · 2024Article
- In Silico Modeling of Fabry Disease Pathophysiology for the Identification of Early Cellular Damage Biomarker Candidates.International journal of molecular sciences · 2024Article
- Detection of α-Galactosidase A Reaction in Samples Extracted from Dried Blood Spots Using Ion-Sensitive Field Effect Transistors.Sensors (Basel, Switzerland) · 2024Article
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
Corrections and comments
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Authors and funding
12 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Newborn screening (NBS) for Fabry disease (FD) is the best way to detect FD early prior to presentation of symptoms and is currently implemented in Taiwan and several states such as Illinois, Missouri, and Tennessee in the United States of America. In this report, we provide data from the first large-scale NBS program for FD in Japan. From August 2006 to December 2018, 599,711 newborns were screened; 26 variants, including 15 pathogenic variants and 11 variants of uncertain significance (VOUS; including eight novel variants), were detected in 57 newborns. Twenty-six male and 11 female newborns with pathogenic variants were diagnosed as hemizygous and heterozygous patients, respectively. Thirteen male and seven female newborns with VOUS were diagnosed as potential hemizygous and potential heterozygous patients, respectively. At the most recent follow up, three of 26 hemizygous patients had manifested symptoms and were receiving enzyme replacement therapy. The other patients were being followed up by clinicians. The frequency of FD (pathogenic variants + VOUS) in this study was estimated to be 1:7683, whereas that of patients with pathogenic variants was 1:11,854. In the future, the NBS system for FD may contribute to the detection of newborns not presenting manifestations related to FD and adults who have or have not developed manifestations related to FD.
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