Associated Papers
Correlation of X chromosome inactivation with clinical presentation of Fabry disease in a case report.
Rodríguez Doyágüez P et al.
Nefrologia, 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
Predictors of outcome in a Spanish cohort of patients with Fabry disease on enzyme replacement therapy.
Goicoechea M et al.
Nefrologia, 2021
Rare diseases, rare presentations: recognizing atypical inherited kidney disease phenotypes in the age of genomics.
Ars E et al.
Clinical Kidney Journal, 2017
Fabry disease: an underrecognized cause of proteinuria.
Fervenza FC et al.
Kidney International, 2008
Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female.
Rodríguez-Marí A et al.
Human Mutation, 2003
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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