Associated Papers
Using the Reactome Graph Database to generate pathway fingerprints for cancer-related genes, and using the fingerprints to gain insights into cancer, comorbidity, and cancer gene networks.
Iengar P et al.
Computational Biology and Chemistry, 2026
Pathogenicity of novel GLA gene missense mutations in Fabry disease and the therapeutic impact of migalastat.
Guo W et al.
Journal of Advanced Research, 2026
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
Genetics, cardiac phenotype and cardiovascular outcomes in Fabry disease patients in Finland.
Valtola K et al.
Esc Heart Failure, 2025
Clinical Efficacy and Real-World Effectiveness of Fabry Disease Treatments: A Systematic Literature Review.
Jovanovic A et al.
Journal of Clinical Medicine, 2025
Disrupted synaptic gene expression in Fabry disease: Findings from RNA sequencing.
López-Valverde L et al.
Neurobiology of Disease, 2025
Nonsense Mutations in Rare and Ultra-Rare Human Disorders: An Overview.
Vitale E et al.
Iubmb Life, 2025
Enhancing Fabry disease screening and diagnostic efficiency: Integration of enzyme, biomarker, and next-generation sequencing testing.
Pan Y et al.
Molecular Genetics and Metabolism, 2025
Phenotypic Evolution in Fabry Disease: Our Experience in Indian Cohort.
Dave U et al.
Indian Journal of Clinical Biochemistry : Ijcb, 2025
2024 Update of the TSOC Expert Consensus of Fabry Disease.
Hung CL et al.
Acta Cardiologica Sinica, 2024
Plasma and platelet lipidome changes in Fabry disease.
Burla B et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers.
López-Valverde L et al.
Translational Research : the Journal of Laboratory and Clinical Medicine, 2024
Anderson-Fabry disease management: role of the cardiologist.
Pieroni M et al.
European Heart Journal, 2024
Use of T1 mapping in cardiac MRI for the follow-up of Fabry disease in a pediatric population.
Werner O et al.
Molecular Genetics and Metabolism Reports, 2024
Complement activation and cellular inflammation in Fabry disease patients despite enzyme replacement therapy.
Laffer B et al.
Frontiers in Immunology, 2024
Overexpression of VEGFα as a biomarker of endothelial dysfunction in aortic tissue of α-GAL-Tg/KO mice and its upregulation in the serum of patients with Fabry's disease.
Lund N et al.
Frontiers in Cardiovascular Medicine, 2024
Infertility in Fabry's Disease: role of hypoxia and inflammation in determining testicular damage.
Sansone L et al.
Frontiers in Endocrinology, 2024
Late-onset renal variant Fabry disease with R112H mutation and mild increase in plasma globotriaosylsphingosine: a case report.
Tanaka K et al.
Frontiers in Medicine, 2024
Prospective characterization of early symptom onset and progression in young pediatric patients with variants in the G LA gene across 5 years: Longitudinal data from the Fabry MOPPet Study.
Laney DA et al.
Genetics in Medicine Open, 2024
Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing.
Guo F et al.
Human Mutation, 2024
Prevalence of Fabry disease in patients with chronic kidney disease: A systematic review and meta-analysis.
Linares D et al.
Molecular Genetics and Metabolism, 2023
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
The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Türkiye.
Oktay V et al.
Anatolian Journal of Cardiology, 2023
Genotype-Phenotype Correlations in 293 Russian Patients with Causal Fabry Disease Variants.
Savostyanov K et al.
Genes, 2023
[Multisystem lesions in orphan diseases: rheumatological aspects of Fabry's disease. Case report].
Mashkunova OV et al.
Terapevticheskii Arkhiv, 2023
Long-term effectiveness of enzyme replacement therapy in Fabry disease with the p.Arg227Ter variant: Fabry disease in Ostrobothnia (FAST) study.
Pietilä-Effati P et al.
American Journal of Medical Genetics. Part A, 2023
Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy.
Braun F et al.
The Journal of Clinical Investigation, 2023
The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants.
Sánchez R et al.
Orphanet Journal of Rare Diseases, 2023
Transcatheter Tricuspid Valve Replacement for Anderson Fabry Disease With Severe Tricuspid Regurgitation.
Zhou GW et al.
Case (philadelphia, Pa.), 2023
A Fabry Disease Patient Who Developed Hypersensitivity Reaction against Agalsidase Beta following COVID-19 Infection.
Sonmez O et al.
Nephron, 2023
Visual outcome, ocular findings, and visual quality of life in patients with Fabry disease.
Nilsson M et al.
Ophthalmic Genetics, 2022
The Benefits of Family Screening in Rare Diseases: Genetic Testing Reveals 165 New Cases of Fabry Disease among At-Risk Family Members of 83 Index Patients.
Moiseev S et al.
Genes, 2022
Renoprotective Effect of Agalsidase Alfa: A Long-Term Follow-Up of Patients with Fabry Disease.
Cybulla M et al.
Journal of Clinical Medicine, 2022
Incidentally identified left ventricular apical aneurysm in a patient with Fabry disease.
Yim J et al.
Echocardiography (mount Kisco, N.y.), 2022
Expanding Approved Patient Populations for Rare Disease Treatment Using In Vitro Data.
Weaver JL et al.
Clinical Pharmacology and Therapeutics, 2022
Cognitive dysfunction and white matter hyperintensities in Fabry disease.
Murphy P et al.
Journal of Inherited Metabolic Disease, 2022
A novel unbiased method reveals progressive podocyte globotriaosylceramide accumulation and loss with age in females with Fabry disease.
Najafian B et al.
Kidney International, 2022
Pulmonary manifestations and the effectiveness of enzyme replacement therapy in Fabry Disease with the p. Arg227Ter (p.R227*) mutation.
Pietilä-Effati P et al.
Molecular Genetics & Genomic Medicine, 2022
Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease.
Germain DP et al.
Clinical Genetics, 2022
Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience.
Effraimidis G et al.
Plos One, 2022
Multidisciplinary approach to screening and management of children with Fabry disease: practice at a Tertiary Children's Hospital in China.
Shen Q et al.
Orphanet Journal of Rare Diseases, 2021
Globotriaosylsphingosine (lyso-Gb3) and analogues in plasma and urine of patients with Fabry disease and correlations with long-term treatment and genotypes in a nationwide female Danish cohort.
Effraimidis G et al.
Journal of Medical Genetics, 2021
High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.
Sawada T et al.
Diagnostics (basel, Switzerland), 2021
2021 TSOC Expert Consensus on the Clinical Features, Diagnosis, and Clinical Management of Cardiac Manifestations of Fabry Disease.
Hung CL et al.
Acta Cardiologica Sinica, 2021
Dosage Compensation in Females with X-Linked Metabolic Disorders.
Juchniewicz P et al.
International Journal of Molecular Sciences, 2021
Hypertrophy of unaffected cardiomyocytes correlates with severity of cardiomyopathy in female patients with Fabry disease.
Chimenti C et al.
Orphanet Journal of Rare Diseases, 2021
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.
Hathaway J et al.
Bmc Cardiovascular Disorders, 2021