Trial reportJournal of human genetics2019
High-risk screening for Anderson-Fabry disease in patients with cardiac, renal, or neurological manifestations.
Trial report in Journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 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
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- A Systematic Literature Review on the Use of Dried Biofluid Microsampling in Patients With Kidney Disease.Journal of clinical laboratory analysis · 2024Pooled it
- Clinical manifestations, diagnosis, and management of renal involvement in Fabry disease.Renal failure · 2026Review
- Screening for Fabry Disease Among Dialysis Patients: A Multicenter Cross-Sectional Study in Türkiye with Cascade Screening of Identified Cases.Medicina (Kaunas, Lithuania) · 2026Article
- Expanded screening for Fabry disease in patients with chronic kidney disease not on dialysis: a multicenter Italian experience.Renal failure · 2025Article
- Early diagnosis of cardiac involvement in Anderson-Fabry disease using cardiac MRI parameters.Future cardiology · 2025Review
- Expert review in diagnostic, therapeutic and follow-up of Fabry disease in Latin America based on patient care standards.Molecular genetics and metabolism reports · 2025Review
- Article
- High-risk screening for Fabry disease in hemodialysis patients in Chiba Prefecture, Japan.Clinical and experimental nephrology · 2023Article
- Clinical evaluation, accurate diagnosis and treatment of four pedigrees with Fabry's disease.Frontiers in pediatrics · 2023Article
- Screening for Fabry's disease in a high-risk subpopulation of FMF.European journal of medical research · 2022Article
- Unexpectedly high renal pathological scores of two female siblings with Fabry disease presenting with urinary mulberry cells without microalbuminuria.Molecular genetics and metabolism reports · 2022Article
- Characteristics of Neurological Symptoms in Adult Japanese Patients with Fabry Disease.Internal medicine (Tokyo, Japan) · 2021Article
- Deficiency in the Screening Process of Fabry Disease: Analysis of Chronic Kidney Patients Not on Dialysis.Frontiers in medicine · 2021Review
- Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screening.Molecular genetics & genomic medicine · 2020Article
- Fabry disease screening in high-risk populations in Japan: a nationwide study.Orphanet journal of rare diseases · 2020Article
- Laboratory Diagnosis of Lysosomal Diseases: Newborn Screening to Treatment.The Clinical biochemist. Reviews · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by abnormalities in the α-galactosidase (Gal) A gene (GLA; MIM:300644). The reduced activity of the lysosomal enzyme, α-galactosidase A (α-Gal A) leads to classic early manifestations and vascular disease of the heart, kidneys, and brain. As a high-risk screening for symptomatic AFD using an enzymatic assay on dried blood spot samples, we enrolled 2325 individuals (803 females and 1522 males; median age: 66 years) with cardiac, renal, or neurological manifestations that met at least one of the following criteria: (a) family history of early-onset cardiovascular diseases; (b) typical classic manifestations, such as acroparesthesias, clustered angiokeratoma, cornea verticillata, and hypo-anhidrosis; (c) proteinuria; (d) receiving dialysis; (e) left ventricular hypertrophy on electrocardiography or echocardiography; or (f) history of stroke. Ninety-two patients displayed low α-Gal A activity. Four males and two females had different pathogenic GLA mutations (0.26%) including a novel mutation c.908-928del21. Four males (0.17%) harbored the GLA c.196G>C (p.E66Q) variant. This simple screening protocol using dried blood spot samples is useful for early diagnosis of AFD in high-risk and underdiagnosed patients suffering from various cardiac, renal, or neurological manifestations.
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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.