Fernando J. Perretta

Belen De Escobar, B, Argentina

Last Updated: 09/26/2026

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Found 16 publications

Diagnosis, treatment, and follow-up of Fabry disease in pediatrics.

Diagnosis, treatment, and follow-up of Fabry disease in pediatrics.

Journal: Molecular genetics and metabolism

Published: October 09, 2025

Urinary VEGF-A165b mRNA expression in Fabry disease: Pilot study.

Urinary VEGF-A165b mRNA expression in Fabry disease: Pilot study.

Journal: Nefrologia

Published: August 10, 2025

New Drugs Available for Fabry Disease.

New Drugs Available for Fabry Disease.

Journal: Kidney & blood pressure research

Published: December 30, 2024

Argentine program of home infusions with enzyme replacement therapy for lysosomal diseases: Results in safety, quality of life and adherence.

Argentine program of home infusions with enzyme replacement therapy for lysosomal diseases: Results in safety, quality of life and adherence.

Journal: Molecular genetics and metabolism

Published: December 09, 2024

Expert review in diagnostic, therapeutic and follow-up of Fabry disease in Latin America based on patient care standards.

Expert review in diagnostic, therapeutic and follow-up of Fabry disease in Latin America based on patient care standards.

Journal: Molecular genetics and metabolism reports

Published: November 18, 2024

Baseline Characteristics of Fabry Disease "Amenable" Migalastat Patients in Argentinian Cohort.

Baseline Characteristics of Fabry Disease "Amenable" Migalastat Patients in Argentinian Cohort.

Journal: Global health, epidemiology and genomics

Published: September 30, 2023

Fabry Disease: Switch from Enzyme Replacement Therapy to Oral Chaperone Migalastat: What Do We Know Today?

Fabry Disease: Switch from Enzyme Replacement Therapy to Oral Chaperone Migalastat: What Do We Know Today?

Journal: Healthcare (Basel, Switzerland)

Published: November 22, 2022

Direct Correlation between Age at Diagnosis and Severity of Nephropathy in Fabry Disease Patients.

Direct Correlation between Age at Diagnosis and Severity of Nephropathy in Fabry Disease Patients.

Journal: Indian journal of nephrology

Published: December 05, 2019

Variables Associated with a Urinary MicroRNAs Excretion Profile Indicative of Renal Fibrosis in Fabry Disease Patients.

Variables Associated with a Urinary MicroRNAs Excretion Profile Indicative of Renal Fibrosis in Fabry Disease Patients.

Journal: International journal of chronic diseases

Published: February 15, 2019

Fabry disease. A potential pitfall A family with a novel intronic mutation.

Fabry disease. A potential pitfall A family with a novel intronic mutation.

Journal: Molecular genetics and metabolism reports

Published: May 02, 2018

Major Organic Involvement in Women with Fabry Disease in Argentina.

Major Organic Involvement in Women with Fabry Disease in Argentina.

Journal: TheScientificWorldJournal

Published: March 18, 2018

Clinical parameters, LysoGb3, podocyturia, and kidney biopsy in children with Fabry disease: is a correlation possible?

Clinical parameters, LysoGb3, podocyturia, and kidney biopsy in children with Fabry disease: is a correlation possible?

Journal: Pediatric nephrology (Berlin, Germany)

Published: February 13, 2018

Showing 1-12 of 16

Last Updated: 09/26/2026