Associated Papers
Unraveling the cellular characteristics of cardiomyopathy with rare variant-driven gene signatures using multi-omics analysis.
Jeong HE et al.
Scientific Reports, 2025
Optimizing α-galactosidase A enzyme cutoff for Fabry disease screening in chronic kidney disease patients: a single-center reassessment of diagnostic yield and cost-effectiveness.
Tsai SF et al.
Renal Failure, 2025
Fabry Disease Screening in Patients with Idiopathic HCM or LVH: Data from the Multicentric Nationwide F-CHECK Study.
Machado R et al.
Biomedicines, 2025
Evaluation of GLA variants detected in newborn screening for Fabry disease using biomarker analysis.
Sawada T et al.
Molecular Genetics and Metabolism Reports, 2025
Impact of ER stress and the unfolded protein response on Fabry disease.
Lenders M et al.
Ebiomedicine, 2025
Case Report: Novel GLA mutation in a Chinese female with renal-predominant Fabry disease and cardiac hypertrophy.
Li L et al.
Frontiers in Genetics, 2025
Determination of Genotype and Phenotypes in Pediatric Patients With Biventricular Noncompaction.
Hirono K et al.
Journal of the American Heart Association, 2024
2024 Update of the TSOC Expert Consensus of Fabry Disease.
Hung CL et al.
Acta Cardiologica Sinica, 2024
Cases of Fabry Disease in Which Pathogenic Variants Are Not Detected in Parent-Child Pairs.
Akeho N et al.
Cureus, 2024
The Diagnostic and Therapeutic Implications of Phenocopies and Mimics of Hypertrophic Cardiomyopathy.
Bakalakos A et al.
The Canadian Journal of Cardiology, 2024
Prevalence of Fabry disease and GLA variants in young patients with acute stroke: The challenge to widen the screening. The Fabry-Stroke Italian Registry.
Romani I et al.
Journal of the Neurological Sciences, 2024
Lysosomal Dysfunction: Connecting the Dots in the Landscape of Human Diseases.
Uribe-Carretero E et al.
Biology, 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
Late-onset fabry disease due to the p.Phe113Leu variant: the first italian cluster of five families.
Cianci V et al.
Metabolic Brain Disease, 2023
Investigation of bone mineral density and the changes by enzyme replacement therapy in patients with Fabry disease.
Nose Y et al.
Molecular Genetics and Metabolism, 2023
Population Frequency of Undiagnosed Fabry Disease in the General Population.
Kermond-Marino A et al.
Kidney International Reports, 2023
Newborn Screening for Fabry Disease: Current Status of Knowledge.
Gragnaniello V et al.
International Journal of Neonatal Screening, 2023
Diagnosis and Management of Fabry Disease in High-Risk Renal Disease Patients in Taiwan: A Single Center Study.
Shih CY et al.
Transplantation Proceedings, 2023
Screening for Fabry disease in a series of Parkinson's disease patients and literature review.
Perillo S et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023
Nationwide screening of Fabry disease in patients with hypertrophic cardiomyopathy in Czech Republic.
Zemánek D et al.
Esc Heart Failure, 2022
An Overview of Molecular Mechanisms in Fabry Disease.
Amodio F et al.
Biomolecules, 2022
Large-Scale Targeted Sequencing Study of Ischemic Stroke in the Han Chinese Population.
Shi M et al.
Journal of the American Heart Association, 2022
Harmonizing variant classification for return of results in the All of Us Research Program.
Harrison SM et al.
Human Mutation, 2022
Identification and functional characterization of the first deep intronic GLA mutation (IVS4+1326C>T) causing renal variant of Fabry disease.
Dai X et al.
Orphanet Journal of Rare Diseases, 2022
Genome sequencing reveals the role of rare genomic variants in Chinese patients with symptomatic intracranial atherosclerotic disease.
Shi M et al.
Stroke and Vascular Neurology, 2022
Unexpectedly high renal pathological scores of two female siblings with Fabry disease presenting with urinary mulberry cells without microalbuminuria.
Yamada N et al.
Molecular Genetics and Metabolism Reports, 2022
Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease.
Germain DP et al.
Clinical Genetics, 2022
Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective.
Ezgu F et al.
Orphanet Journal of Rare Diseases, 2022
Clinical Characteristics, Renal Involvement, and Therapeutic Options of Pediatric Patients With Fabry Disease.
Muntean C et al.
Frontiers in Pediatrics, 2022
Screening of Fabry disease in patients with chronic kidney disease in Japan.
Nagata A et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2021
Fabry nephropathy before and after enzyme replacement therapy: important role of renal biopsy in patients with Fabry disease.
Kim IY et al.
Kidney Research and Clinical Practice, 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
Plasma Globotriaosylsphingosine and α-Galactosidase A Activity as a Combined Screening Biomarker for Fabry Disease in a Large Japanese Cohort.
Maruyama H et al.
Current Issues in Molecular Biology, 2021
Human α-Galactosidase A Mutants: Priceless Tools to Develop Novel Therapies for Fabry Disease.
Modrego A et al.
International Journal of Molecular Sciences, 2021
The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.
Germain DP et al.
Molecular Genetics & Genomic Medicine, 2021
Rare Variants Analysis of Lysosomal Related Genes in Early-Onset and Familial Parkinson's Disease in a Chinese Cohort.
Chen YP et al.
Journal of Parkinson's Disease, 2021
Nationwide screening for Fabry disease in unselected stroke patients.
Tomek A et al.
Plos One, 2021
Hypertrophic Cardiomyopathy: Diverse Pathophysiology Revealed by Genetic Research, Toward Future Therapy.
Hayashi T
The Keio Journal of Medicine, 2020
Fabry disease: where are we now?
Turkmen K et al.
International Urology and Nephrology, 2020
Fabry disease screening in high-risk populations in Japan: a nationwide study.
Yoshida S et al.
Orphanet Journal of Rare Diseases, 2020
Various Clinical Manifestations in a Heterozygous Fabry Disease Family: From Asymptomatic to Acute Ischemic Stroke with Intracranial Cerebral Artery Stenosis.
Cho BH et al.
Journal of Clinical Neurology (seoul, Korea), 2020
GLA missense and promoter variants co-segregating in a Chinese family with Fabry disease.
Dong ZY et al.
Annals of Translational Medicine, 2020
Identifying Fabry patients in dialysis population: prevalence of GLA mutations by renal clinic screening, 1995-2019.
Capuano I et al.
Journal of Nephrology, 2020