Associated Papers
The clinical utility of systematic reporting of secondary findings in prenatal diagnosis.
Yin K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Cardiac Phenotypes in Fabry Disease: Genetic Variability and Clinical Severity Staging Correlation in a Reference Center Cohort.
Faro DC et al.
Genes, 2025
Enzyme Replacement and Immunosuppression in Heart Transplant Recipients with Fabry Cardiomyopathy: A 7-Year Case Study.
Muras-Szwedziak K et al.
The American Journal of Case Reports, 2025
Fabry Disease and Inflammation: Potential Role of p65 iso5, an Isoform of the NF-κB Complex.
Biddeci G et al.
Cells, 2025
Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies.
Monda E et al.
Circulation. Genomic and Precision Medicine, 2023
Sex Differences in Anderson-Fabry Cardiomyopathy: Clinical, Genetic, and Imaging Analysis in Women.
Faro DC et al.
Genes, 2023
Population Frequency of Undiagnosed Fabry Disease in the General Population.
Kermond-Marino A et al.
Kidney International Reports, 2023
Experimental evidence and clinical implications of Warburg effect in the skeletal muscle of Fabry disease.
Gambardella J et al.
Iscience, 2023
Visual outcome, ocular findings, and visual quality of life in patients with Fabry disease.
Nilsson M et al.
Ophthalmic Genetics, 2022
Fabry's Disease: The Utility of a Multidisciplinary Screening Approach.
Monte MA et al.
Life (basel, Switzerland), 2022
Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience.
Gragnaniello V et al.
Biomolecules, 2021
Recurrent fever of unknown origin: An overlooked symptom of Fabry disease.
Luo Y et al.
Molecular Genetics & Genomic Medicine, 2020
Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.
Lukas J et al.
International Journal of Molecular Sciences, 2020
Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase.
Cimmaruta C et al.
Bmc Bioinformatics, 2018
Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?
Duro G et al.
International Journal of Molecular Sciences, 2018
Fabry disease and multiple sclerosis misdiagnosis: the role of family history and neurological signs.
Colomba P et al.
Oncotarget, 2018
Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease.
Tuttolomondo A et al.
Oncotarget, 2017
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.
Benjamin ER et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations.
Citro V et al.
International Journal of Molecular Sciences, 2016
The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis.
Verrecchia E et al.
European Journal of Internal Medicine, 2016
p.R301X Mutation and Variable Phenotypic Appearance of Fabry Disease.
Ozelsancak R et al.
The American Journal of Case Reports, 2016
Glycomimetic-based pharmacological chaperones for lysosomal storage disorders: lessons from Gaucher, GM1-gangliosidosis and Fabry diseases.
Sánchez-Fernández EM et al.
Chemical Communications (cambridge, England), 2016
High variability of Fabry disease manifestations in an extended Italian family.
Cammarata G et al.
Biomed Research International, 2015
Fabry disease: experience of screening dialysis patients for Fabry disease.
Kusano E et al.
Clinical and Experimental Nephrology, 2014
Misdiagnosis of familial Mediterranean fever in patients with Anderson-Fabry disease.
Zizzo C et al.
Clinical Genetics, 2013
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.
Ferri L et al.
Clinical Genetics, 2012
Pharmacological chaperone therapy for Fabry disease.
Ishii S
Proceedings of the Japan Academy. Series B, Physical and Biological Sciences, 2012
Molecular mechanism for stabilization of a mutant α-galactosidase A involving M51I amino acid substitution by imino sugars.
Tsukimura T et al.
Molecular Genetics and Metabolism, 2011
High incidence of later-onset fabry disease revealed by newborn screening.
Spada M et al.
American Journal of Human Genetics, 2006