Gene panel for the diagnosis of epidermolysis bullosa: proposal for a viable and efficient approach, by Luiza Monteavaro Mariath, Ana Elisa Kiszewski, Jeanine Aparecida Frantz, Marina Siebert, Ursula Matte, Lavínia Schuler-Faccini

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Assessment of cellular cobalamin metabolism in Gaucher disease by Suelen Porto Basgalupp, Marina Siebert, Charles Ferreira, Sidney Behringer, Ute Spiekerkoetter, Luciana Hannibal, Ida Vanessa Doederlein Schwartz

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Histomorphometric analysis of liver biopsies of treated patients with Gaucher disease type 1 by Rodrigo Tzovenos Starosta, Marina Siebert, Filippo Pinto e Vairo, Bruno Lafaiete de Lima Costa, Christiano Tomaso Ponzoni, Ida Vanessa Doederlein Schwartz, Carlos Thadeu Schmidt Cerski

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A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease by Wendy Westbroek, Matthew Nguyen, Marina Siebert, Taylor Lindstrom, Robert A. Burnett, Elma Aflaki, Olive Jung, Rafael Tamargo, Jorge L. Rodriguez-Gil, Walter Acosta, An Hendrix, Bahafta Behre, Nahid Tayebi, Hideji Fujiwara, Rohini Sidhu, Benoit Renvoise, Edward I. Ginns, Amalia Dutra, Evgenia Pak, Carole Cramer, Daniel S. Ory, William J. Pavan, Ellen Sidransky

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