Browsing by Author "Rozenfeld, Paula"

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Cytogenomic evaluation of chromosome rearrangements by array-CGH in the iduronate-2 sulphatase (IDS) gene region

Riegel, Mariluce; Mergener, Rafaella; Leistner-Segal, Sandra; Rozenfeld, Paula; Giugliani, Roberto (2013) [Abstract published in event]
Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America

Giugliani, Roberto; Taucher, Silvia Castillo; Hafez, Sylvia; Oliveira, João Bosco; Restrepo, Mariana Rico; Rozenfeld, Paula; Zarante, Ignacio; Gonzaga-Jauregui, Claudia (2022) [Journal article]

Rare diseases (RDs) cause considerable death and disability in Latin America. Still, there is no consensus on their definition across the region. Patients with RDs face a diagnostic odyssey to find a correct diagnosis, ...