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Molecular Genetics and Metabolism Reports|March 18, 2021
New mutation in Fabry disease: c.448delG, first phenotypic descriptionEsteban Calabrese, Guillermo Rodriguez Botta, Dra Paula Rosenfeld
Lipids|November 12, 2025
Long-Chain Fatty Acid Beta-Oxidation Defects: A Case Series and Literature ReviewJuan Politei, Andrés Berardo, Esteban Calabrese, et al.
Global Health, Epidemiology and Genomics|February 27, 2024
Baseline Characteristics of Fabry Disease "Amenable" Migalastat Patients in Argentinian CohortSebastián Jaurretche, Santiago Alonso, Mónica Calvo, et al.
Medicina|September 5, 2018
[Argentine consensus on late-onset Pompe's disease]Alberto Dubrovsky, Ernesto Fulgenzi, Eduardo L De Vito, et al.
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