Case report the benefits of early versus late therapeutic intervention in fabry disease

HIGHLIGHTS

• who: Mou0301nica Furlano et al. from the Instituto de Investigaciones Biomu00e9dicas Sant Pau (IIB-Sant Pau), Medicine Department-Universitat Autou0301noma de Barcelona, Barcelona, Spain have published the paper: Case Report The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease, in the Journal: Case Reports in Genetics of 30/Dec/2022
• what: The authors report the case of two women with the p Ile270Tr pathogenic variant who have been treated with migalastat for 11 and 5 years, respectively, and the diferences in functional class deterioration depending on early therapeutic intervention.

SUMMARY

 



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