Norma Roa

The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina Genotype, Experiences, Anecdotes, and New Learnings

P. Rozenfeld, R. Ceci, I. Kisinovsky, 2015 .

Misdiagnosis in Fabry disease.

S. Bianchi, R. Reisin, A. Pardal, 2010, The Journal of pediatrics.

Fabry pedigree analysis: A successful program for targeted genetic approach

P. Rozenfeld, R. Ceci, F. Masllorens, 2019, Molecular genetics & genomic medicine.