Fabry disease in Argentina: clinical, biochemical and molecular correlation in all reported GLA variants.
Our results showed that the combined analysis of the clinical picture, leukocyte enzyme activity, globotriaosylsphingosine concentration and a detailed exhaustive study of the genetic variant lead to a definite diagnosis in those cases previously interpreted as of unknown significance, together with a revised interpretation of the phenotype.
Authors
- Romina Ceci
- Lucas Silvestroff
- Rita Valdéz
- Juan Politei (ORCID: https://orcid.org/0000-0003-3882-3136)
- Paula Rozenfeld
- Domingo Procopio
Institutions
- Helios Salud (AR)
Publication Details
- Journal
- PubMed
- Published
- 2025-01-01
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00