ReviewThe application of clinical genetics2019
Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype- phenotype correlations.
Review in The application of clinical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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
40 citing papers in PubMed, 56 citations in OpenAlex.
- Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study.Journal of medical genetics · 2024Trial
- Review
- Multimodal phenotypic clustering predicts cardiac outcomes in Fabry disease.Orphanet journal of rare diseases · 2026Article
- The impact of cardiovascular risk factors in non-classical Fabry disease.Orphanet journal of rare diseases · 2026Article
- Position Statement on Multimodal Cardiac Imaging in Patients with Systemic Diseases - 2026.Arquivos brasileiros de cardiologia · 2026Article
- Article
- Fabry Disease Beyond Storage: The Role of Inflammation in Disease Progression.International journal of molecular sciences · 2025Review
- Phenotypic Evolution in Fabry Disease: Our Experience in Indian Cohort.Indian journal of clinical biochemistry : IJCB · 2025Article
- GLA insufficiency should not be called Fabry disease.European journal of human genetics : EJHG · 2025Article
- Article
- Cryptogenic strokes and neurological symptoms of Fabry disease.Frontiers in neurology · 2025Article
- Systemic metabolic reprogramming and microbial dysbiosis in Fabry disease: Multi-omics mechanisms and implications for drug development.Frontiers in pharmacology · 2025Review
- Unambiguous Interpretation of the Pathogenicity of the GLA c.547+3A>G Variant Causing Fabry Disease.Genes · 2024Article
- Establishing Treatment Effectiveness in Fabry Disease: Observation-Based Recommendations for Improvement.International journal of molecular sciences · 2024Review
- Dynamics of Leukocyte Telomere Length in Patients with Fabry Disease.Biomedicines · 2024Article
- Inflammation, Oxidative Stress, and Endothelial Dysfunction in the Pathogenesis of Vascular Damage: Unraveling Novel Cardiovascular Risk Factors in Fabry Disease.International journal of molecular sciences · 2024Review
- Flow Cytometry-Based Assay to Detect Alpha Galactosidase Enzymatic Activity at the Cellular Level.Cells · 2024Article
- What Is Hidden in Patients with Unknown Nephropathy? Genetic Screening Could Be the Missing Link in Kidney Transplantation Diagnosis and Management.International journal of molecular sciences · 2024Article
- All reported non-canonical splice site variants in GLA cause aberrant splicing.Clinical and experimental nephrology · 2023Article
- Morphological Hallmarks of Classical Fabry Disease: An Ultrastructural Study in a Large Spanish Family.Journal of clinical medicine · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fabry disease (FD) is a rare X-linked glycosphingolipidosis resulting from deficient α-galactosidase A (AGAL) activity, caused by pathogenic mutations in the
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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.