Associated Papers
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
Proton Density of the Dorsal Root Ganglia in Classical Fabry Disease: MRI Correlates of Small Fibre Neuropathy.
Weiner S et al.
Biomedicines, 2025
40564187 (PubMed )
Supplement: biomedicines-13-01468-s001.zip › biomedicines-3648045-supplementary.pdf
MRI T2 Mapping of Dorsal Root Ganglia Reveals Increased T2 Relaxation Time in Classical Fabry Disease.
Weiner S et al.
Biomedicines, 2025
40149569 (PubMed )
Supplement: biomedicines-13-00592-s001.zip › Supplementary_Table_S1_T2_FD.pdf
Prevalence and Clinical Correlates of Cerebrovascular Alterations in Fabry Disease: A Cross-Sectional Study.
Di Natale D et al.
Brain Sciences, 2025
40002499 (PubMed )
Supplement: brainsci-15-00166-s001.zip › brainsci-3430399-supplementary › Supplementary_table_S1.pdf
Long-read sequencing enables comprehensive molecular genetic diagnosis of Fabry disease.
Yao F et al.
Human Genomics, 2024
Newborn Screening for 6 Lysosomal Storage Disorders in China.
Chang S et al.
Jama Network Open, 2024
Genotype-Phenotype Correlations in 293 Russian Patients with Causal Fabry Disease Variants.
Savostyanov K et al.
Genes, 2023
X-chromosomal inactivation patterns in women with Fabry disease.
Wagenhäuser L et al.
Molecular Genetics & Genomic Medicine, 2022
Clinical Characteristics, Renal Involvement, and Therapeutic Options of Pediatric Patients With Fabry Disease.
Muntean C et al.
Frontiers in Pediatrics, 2022
High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.
Sawada T et al.
Diagnostics (basel, Switzerland), 2021
Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screening.
Sawada T et al.
Molecular Genetics & Genomic Medicine, 2020
33016649 (PubMed )
Supplement: MGG3-8-e1502-s001.xlsx › Table_S1
Fabry disease screening in high-risk populations in Japan: a nationwide study.
Yoshida S et al.
Orphanet Journal of Rare Diseases, 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
Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.
Mauhin W et al.
Plos One, 2020
32442237 (PubMed )
Supplement: pone.0233460.s001.xlsx › Feuil1
Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.
Cecconi M et al.
International Journal of Molecular Medicine, 2016
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