ArticleOncotarget2017
Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease.
Article in Oncotarget, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- X Chromosome Inactivation in Carriers of Fabry Disease: Review and Meta-Analysis.International journal of molecular sciences · 2021Pooled it
- Review
- Phenotypic Variability of Kidney Involvement in Fabry Disease-Lessons from a Family Study.Life (Basel, Switzerland) · 2026Article
- Cardiac manifestations of Fabry disease.NPJ cardiovascular health · 2025Review
- Fabry Disease Beyond Storage: The Role of Inflammation in Disease Progression.International journal of molecular sciences · 2025Review
- Fabry Disease and Inflammation: Potential Role of p65 iso5, an Isoform of the NF-κB Complex.Cells · 2025Article
- Beginning of a new era of synthetic messenger RNA therapeutics: Comprehensive insights on mRNA drug design, development and applications.Experimental biology and medicine (Maywood, N.J.) · 2025Review
- Phenotypic variability and the gender paradox in the R363C variant of Fabry disease.JIMD reports · 2025Article
- Complement System and Adhesion Molecule Skirmishes in Fabry Disease: Insights into Pathogenesis and Disease Mechanisms.International journal of molecular sciences · 2024Review
- Fabry disease in female monozygotic twins with complex intronic haplotype variants: a case report.BMC medical genomics · 2024Article
- Generation of GLA-knockout human embryonic stem cell lines to model peripheral neuropathy in Fabry disease.Molecular genetics and metabolism reports · 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
- Reduced α-galactosidase A activity in zebrafish (Molecular genetics and metabolism reports · 2022Article
- X-Chromosome Inactivation and Related Diseases.Genetics research · 2022Review
- Misfolding of Lysosomal α-Galactosidase a in a Fly Model and Its Alleviation by the Pharmacological Chaperone Migalastat.International journal of molecular sciences · 2020Article
- Previously Unidentified Gene Variation Associated with Fabry Disease: The Impact on One Family.Case reports in nephrology · 2020Article
- Migalastat: A Review in Fabry Disease.Drugs · 2019Review
- Fabry disease - current data and therapeutic approaches.Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologieReview
Corrections and comments
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Authors and funding
15 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAnderson-Fabry disease (AFD) is an inborn lysosomal enzymopathy resulting from the deficient or absent activity of the lysosomal exogalactohydrolase, α-galactosidase A. This deficiency, results in the altered metabolism of glycosphingolipids which leads to their accumulation in lysosomes, thus to cellular and vascular dysfunction. To date, numerous mutations (according to recent data more than 1000 mutations) have been reported in the GLA intronic and exonic mutations. Traditionally, clinical manifestations are more severe in affected hemizygous males than in females. Nevertheless, recent studies have described severe organ dysfunction in women. THE AIM OF THE STUDY: This study reports clinical, biochemical, and molecular findings of the members of three Sicilian families. The clinical history of these patients highlights a remarkable interfamilial and intrafamilial phenotypic variability which characterizes Fabry disease relative to target organs and severity of clinical manifestations. DISCUSSION: Our findings, in agreement with previous data, report a little genotype-phenotype correlation for the disease, suggesting that the wide phenotypic variability of Anderson-Fabry disease is not completely ascribable to different gene mutations but other factors and mechanisms seem to be involved in the pathogenesis and clinical expression of the disease. Moreover, this study emphasies the importance of pedigree analysis in the family of each proband for identifying other possibly affected relatives.
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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.