Associated Papers
Exosome-Based Proteomic Profiling for Biomarker Discovery in Pediatric Fabry Disease: Insights into Early Diagnosis Monitoring.
Lu Z et al.
Biomedicines, 2025
Proton Density of the Dorsal Root Ganglia in Classical Fabry Disease: MRI Correlates of Small Fibre Neuropathy.
Weiner S et al.
Biomedicines, 2025
MRI T2 Mapping of Dorsal Root Ganglia Reveals Increased T2 Relaxation Time in Classical Fabry Disease.
Weiner S et al.
Biomedicines, 2025
Decreased trabecular bone score in patients affected by Fabry disease.
Varaldo E et al.
Journal of Endocrinological Investigation, 2025
Long-read sequencing enables comprehensive molecular genetic diagnosis of Fabry disease.
Yao F et al.
Human Genomics, 2024
How Do Physical Activity and Exercise Affect Fabry Disease? Exploring a New Opportunity.
Baciga F et al.
Kidney & Blood Pressure Research, 2024
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
Low skeletal muscle mass as an early sign in children with fabry disease.
Lu Z et al.
Orphanet Journal of Rare Diseases, 2023
Sphingosine-1-Phosphate Levels Are Higher in Male Patients with Non-Classic Fabry Disease.
Mauhin W et al.
Journal of Clinical Medicine, 2022
Parsing Fabry Disease Metabolic Plasticity Using Metabolomics.
Ducatez F et al.
Journal of Personalized Medicine, 2021
[Clinical features and enzyme replacement therapy in 4 children with Fabry disease].
Lu ZH et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2021
Increased Serum Interleukin-6 and Tumor Necrosis Factor Alpha Levels in Fabry Disease: Correlation with Disease Burden.
Rosa Neto NS et al.
Clinics (sao Paulo, Brazil), 2021
Depression, sleep disturbances, pain, disability and quality of LIFE in Brazilian Fabry disease patients.
Rosa Neto NS et al.
Molecular Genetics and Metabolism Reports, 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
Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.
Varela P et al.
Orphanet Journal of Rare Diseases, 2020
Higher rate of rheumatic manifestations and delay in diagnosis in Brazilian Fabry disease patients.
Rosa Neto NS et al.
Advances in Rheumatology (london, England), 2020
Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.
Mauhin W et al.
Plos One, 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
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
Genetic variants associated with gastrointestinal symptoms in Fabry disease.
Di Martino MT et al.
Oncotarget, 2016
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
Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.
Pan X et al.
Plos One, 2016
Idiopathic small fiber neuropathy: phenotype, etiologies, and the search for fabry disease.
Samuelsson K et al.
Journal of Clinical Neurology (seoul, Korea), 2014
Fabry disease - underestimated in the differential diagnosis of multiple sclerosis?
Böttcher T et al.
Plos One, 2013
Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.
Saito S et al.
Plos One, 2013
New mutations in the GLA gene in Brazilian families with Fabry disease.
Turaça LT et al.
Journal of Human Genetics, 2012
Persistent increase in cardiac troponin I in Fabry disease: a case report.
Tanislav C et al.
Bmc Cardiovascular Disorders, 2011
Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study.
Andreotti G et al.
Orphanet Journal of Rare Diseases, 2010
Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.
Kuipers R et al.
Human Mutation, 2010
Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women.
Havndrup O et al.
European Journal of Heart Failure, 2010
The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines.
Benjamin ER et al.
Journal of Inherited Metabolic Disease, 2009
[Fabry's disease (alpha-galactosidase-A deficiency): physiopathology, clinical signs, and genetic aspects].
Germain DP
Journal De La Societe De Biologie, 2002
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.
Altarescu GM et al.
Clinical Genetics, 2001
Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.
Ashton-Prolla P et al.
Journal of Investigative Medicine : the Official Publication of the American Federation for Clinical Research, 2000
Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.
Topaloglu AK et al.
Molecular Medicine (cambridge, Mass.), 1999
Genetic and phenotypic profile of Fabry disease in the population of Vale do Paraiba and Eastern São Paulo.
Paz OTD et al.
Jornal Brasileiro De Nefrologia, 0