Research Output

2024 2024 2023 2023 2022 2022 2021 2021 2020 2020 0.0 0.0 0.2 0.2 0.4 0.4 0.6 0.6 0.8 0.8 1.0 1.0
Now showing 1 - 2 of 2
No Thumbnail Available
Publication

Epidemiology of epidermolysis bullosa in Chile

2024 , PALISSON ETCHARREN, FRANCIS , YUBERO GONCALVEZ, MARIA JOAO , Cristóbal Lecaros , Susanne Krämer , Constanza Fuentes , Pilar Morandé , Belkis Noya , Glenda Cofré , Jimena Castillo , Francisco Acevedo , Natalia Burattini , Antonella Muñoz , Alfred Klausseger , FUENTES BUSTOS, MARIA IGNACIA

In this manuscript we are presenting the first National Epidermolysis Bullosa Epidemiology study done in South America. Our manuscript describes not only population-level estimates, such as incidence, prevalence and mortality of EB, but also genetic data that are unique to this underrepresented population. We report new data about this rare disease showing comparable life expectancy to wealthier nations, demonstrating the value of specialized EB care centres.

No Thumbnail Available
Publication

Absence of tongue papillae as a clinical criterion for the diagnosis of generalized recessive dystrophic epidermolysis bullosa types

2020 , Susanne Krämer , FUENTES BUSTOS, MARIA IGNACIA , YUBERO GONCALVEZ, MARIA JOAO , Carolina Encina , José Farfán , Ignacio Araya , CASTILLO BENNETT, JIMENA VICTORIA , Constanza Fuentes , María Elena McNab , Gisela Zillmann , Marcelo Valle , Anne W. Lucky , Francis Palisson