ArticleBMJ open2017
Fabry disease due to D313Y and novel GLA mutations.
Article in BMJ open, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 30 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 50 citations in OpenAlex.
- Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review.Journal of inherited metabolic disease · 2025Pooled it
- Screening for Fabry Disease Among Dialysis Patients: A Multicenter Cross-Sectional Study in Türkiye with Cascade Screening of Identified Cases.Medicina (Kaunas, Lithuania) · 2026Article
- Pathogenicity of novel GLA gene missense mutations in Fabry disease and the therapeutic impact of migalastat.Journal of advanced research · 2026Article
- A case of cardiac involvement in Fabry disease caused by the p.D313Y variant of the GLA-gene.European heart journal. Case reports · 2025Article
- Clinical and Biochemical Characterization of Fabry Disease Associated GLA Gene Variants: Data From a Large Cohort of 469 Thousand Genotyped Subjects of the UK Biobank Database.Journal of inherited metabolic disease · 2025Article
- Article
- A Retrospective Cohort Study of the GLA c.937G > T, p.Asp313Tyr Variant With No Evidence of an Association With Fabry Disease.Neurology. Genetics · 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
- Potential Pathogenetic Role of the D313Y Mutation in theInternational journal of molecular sciences · 2025Article
- Echocardiography-guided percutaneous intramyocardial septal radiofrequency ablation procedure for the treatment of Fabry disease: a case report.European heart journal. Case reports · 2025Article
- Case Report: Novel GLA mutation in a Chinese female with renal-predominant Fabry disease and cardiac hypertrophy.Frontiers in genetics · 2025Article
- Article
- Safety and efficacy of pegunigalsidase alfa in patients with Fabry disease who were previously treated with agalsidase alfa: results from BRIDGE, a phase 3 open-label study.Orphanet journal of rare diseases · 2023Article
- Sex Differences in Anderson-Fabry Cardiomyopathy: Clinical, Genetic, and Imaging Analysis in Women.Genes · 2023Article
- Author Response:Neurology · 2023Article
- What Is the Role of Sensorineural Hearing Loss in Fabry Disease Screening?Turkish archives of otorhinolaryngology · 2023Article
- Fabry disease due to D313Y variant with renal failure and possible cardiac involvement: a case report.European heart journal. Case reports · 2023Article
- Comparison of classical Fabry and its p.D313Y and p.A143T variants by cardiac T1 mapping, LGE and feature tracking myocardial strain.Scientific reports · 2023Article
- How relevant are cerebral white matter lesions in the D313Y variant of the α-galactosidase A gene? Neurological, cardiological, laboratory, and MRI data of 21 patients within a follow-up of 3 years.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Review
- Pharmacological Chaperones and Protein Conformational Diseases: Approaches of Computational Structural Biology.International journal of molecular sciences · 2023Review
Corrections and comments
- Erratum issuedCorrection:2018
Authors and funding
12 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesOur aim is to report four novel α-gal A gene ( SETTING AND
participantsTwenty-five family members of nine unrelated patients with definite FD diagnosis, 10 clinically suspected cases and 18 members of their families were included in this polycentric cohort study. PRIMARY AND SECONDARY OUTCOME MEASURES: Genotyping and measurement of lyso-Gb
resultsFourteen new cases of FD were recognised, four of which were carrying already described
conclusionsFour novel
Indexed as
Identifiers
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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.