| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8595357 | Journal of Stroke and Cerebrovascular Diseases | 2018 | 8 Pages |
Abstract
FD was identified in 1 patient (.3%) in this first Latin American study. The patient presented with a late-onset oligo-symptomatic form of the disease. A large number of nonpathogenic mutations were present in our cohort, and it is essential that they not be mistaken for pathogenic mutations to avoid unnecessary enzyme replacement treatment.
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Authors
Ricardo C. MD, Julieta MD, Luciana León MD, Alberto MD, Pablo MD, Manuel Fernández MD, Alejandra MD, Patricia MD, Sebastián MD, Eduardo MD, Pedro MD, Patricia MD, Lorena MD, Andrea MD, Paula PhD, Romina PhD, Ignacio MD, PhD, FAAN, AnalÃa MD,