Associated Papers
Genotype-Phenotype Correlations in 293 Russian Patients with Causal Fabry Disease Variants.
Savostyanov K et al.
Genes, 2023
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
The potential consequences of bidirectional promoter methylation on GLA and HNRNPH2 expression in Fabry disease phenotypes in a family of patients carrying a GLA deletion variant.
Al-Obaide MA et al.
Biomedical Reports, 2022
Cognitive dysfunction and white matter hyperintensities in Fabry disease.
Murphy P et al.
Journal of Inherited Metabolic Disease, 2022
Pitfalls of X-chromosome inactivation testing in females with Fabry disease.
Řeboun M et al.
American Journal of Medical Genetics. Part A, 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
Dosage Compensation in Females with X-Linked Metabolic Disorders.
Juchniewicz P et al.
International Journal of Molecular Sciences, 2021
33925963 (PubMed )
Supplement: ijms-22-04514-s001.zip › Supplementary_File_Table_S3.pdf
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
Simple and efficient screening of patients with Fabry disease with high resolution melting.
Pasqualim G et al.
Clinical Biochemistry, 2018
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