Associated Papers
Correlation of X chromosome inactivation with clinical presentation of Fabry disease in a case report.
Rodríguez Doyágüez P et al.
Nefrologia, 2023
Predictors of outcome in a Spanish cohort of patients with Fabry disease on enzyme replacement therapy.
Goicoechea M et al.
Nefrologia, 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
Fabry disease screening in high-risk populations in Japan: a nationwide study.
Yoshida S et al.
Orphanet Journal of Rare Diseases, 2020
Rare diseases, rare presentations: recognizing atypical inherited kidney disease phenotypes in the age of genomics.
Ars E et al.
Clinical Kidney Journal, 2017
Predictors of outcome in a Spanish cohort of patients with Fabry disease on enzyme replacement therapy.
Goicoechea M et al.
Nefrologia, 0
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