ArticleBioMed research international2015
High variability of Fabry disease manifestations in an extended Italian family.
Article in BioMed research international, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 31 citations in OpenAlex.
- Review
- Phenotypic Variability of Kidney Involvement in Fabry Disease-Lessons from a Family Study.Life (Basel, Switzerland) · 2026Article
- 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
- Article
- Interaction of Fabry Disease and Diabetes Mellitus: Suboptimal Recruitment of Kidney Protective Factors.International journal of molecular sciences · 2023Article
- Sex Differences in Anderson-Fabry Cardiomyopathy: Clinical, Genetic, and Imaging Analysis in Women.Genes · 2023Article
- 2023 Padua Days of Muscle and Mobility Medicine: post-meeting Book of Abstracts.European journal of translational myology · 2023Article
- Abstracts of the 2023 Padua Days of Muscle and Mobility Medicine (2023Pdm3) to be held March 29 - April 1 at the Galileian Academy of Padua and at the Petrarca Hotel, Thermae of Euganean Hills, Padua, Italy.European journal of translational myology · 2023Article
- Fabry's Disease: The Utility of a Multidisciplinary Screening Approach.Life (Basel, Switzerland) · 2022Article
- Balance control impairments in Fabry disease.Frontiers in neurology · 2022Article
- A classic variant of Fabry disease in a family with the M296I late-onset variant.CEN case reports · 2021Article
- Use of a rare disease registry for establishing phenotypic classification of previously unassignedJournal of medical genetics · 2020Article
- Clinical Diversity in Patients with Anderson-fabry Disease with the R301Q Mutation.Internal medicine (Tokyo, Japan) · 2019Article
- Exploring genetic modifiers of Gaucher disease: The next horizon.Human mutation · 2018Review
- Anderson-Fabry disease in heart failure.Biophysical reviews · 2018Review
- Article
- Fabry disease and multiple sclerosis misdiagnosis: the role of family history and neurological signs.Oncotarget · 2018Article
- Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease.Oncotarget · 2017Article
- Screening of Fabry disease in patients with end-stage renal disease of unknown etiology: the first Thailand study.Journal of biomedical research · 2016Article
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fabry disease (FD) is an inherited metabolic disorder caused by partial or full inactivation of the lysosomal hydrolase α-galactosidase A (α-GAL). The impairment of α-GAL results in the accumulation of undegraded glycosphingolipids in lysosomes and subsequent cell and microvascular dysfunctions. This study reports the clinical, biochemical, and molecular characterization of 15 members of the same family. Eight members showed the exonic mutation M51I in the GLA gene, a disease-causing mutation associated with the atypical phenotype. The clinical history of this family highlights a wide phenotypic variability, in terms of involved organs and severity. The phenotypic variability of two male patients is not related to differences in α-GAL enzymatic activity: though both have no enzymatic activity, the youngest shows severe symptoms, while the eldest is asymptomatic. It is noticeable that for two female patients with the M51I mutation the initial clinical diagnosis was different from FD. One of them was diagnosed with Familial Mediterranean Fever, the other with Multiple Sclerosis. Overall, this study confirms that the extreme variability of the clinical manifestations of FD is not entirely attributable to different mutations in the GLA gene and emphasizes the need to consider other factors or mechanisms involved in the pathogenesis of Fabry Disease.
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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.