Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report by Laura Schultz-Rogers, Karthik Muthusamy, Filippo Pinto e Vairo, Eric W. Klee, Brendan Lanpher

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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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Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center by Ana Paula Pereira Scholz de Magalhães, Maira Graeff Burin, Carolina Fischinger Moura de Souza, Fernanda Hendges de Bitencourt, Fernanda Medeiros Sebastião, Thiago Oliveira Silva, Filippo Pinto e Vairo, Ida Vanessa Doederlein Schwartz

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Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten‐year experience in a Brazilian center by Ana Paula Pereira Scholz de Magalhães, Maira Graeff Burin, Carolina Fischinger Moura de Souza, Fernanda Hendges de Bitencourt, Fernanda Medeiros Sebastião, Thiago Oliveira Silva, Filippo Pinto e Vairo, Ida Vanessa Doederlein Schwartz

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