GBA1 variants in Brazilian Gaucher disease patients

por Basgalupp, Suelen Porto, Altmann, Vivian, Vairo, Filippo Pinto e, Schwartz, Ida Vanessa Doederlein, Siebert, Marina
Publicado 2023

Maple syrup urine disease: mechanisms and management

por Blackburn, Patrick R, Gass, Jennifer M, Vairo, Filippo Pinto e, Farnham, Kristen M, Atwal, Herjot K, Macklin, Sarah, Klee, Eric W, Atwal, Paldeep S
Publicado 2017

Histomorphometric analysis of liver biopsies of treated patients with Gaucher disease type 1

por Starosta, Rodrigo Tzovenos, Siebert, Marina, Vairo, Filippo Pinto e, Costa, Bruno Lafaiete de Lima, Ponzoni, Christiano Tomaso, Schwartz, Ida Vanessa Doederlein, Cerski, Carlos Thadeu Schmidt
Publicado 2021

Efficacy and safety of intravenous laronidase for mucopolysaccharidosis type I: A systematic review and meta-analysis

por Dornelles, Alícia Dorneles, Artigalás, Osvaldo, da Silva, André Anjos, Ardila, Dora Lucia Vallejo, Alegra, Taciane, Pereira, Tiago Veiga, Vairo, Filippo Pinto e, Schwartz, Ida Vanessa Doederlein
Publicado 2017

Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1

por d'Avila Paskulin, Livia, Starosta, Rodrigo Tzovenos, Zizemer, Vitória Schütt, Basgalupp, Suélen, Bertholdo, Débora, Vairo, Filippo Pinto e, Siebert, Marina, Michelin-Tirelli, Kristiane, Schwartz, Ida Vanessa Doederlein
Publicado 2019

Liver involvement in patients with Gaucher disease types I and III

por Starosta, Rodrigo Tzovenos, Vairo, Filippo Pinto e, Dornelles, Alícia Dorneles, Basgalupp, Suélen Porto, Siebert, Marina, Pedroso, Maria Lúcia Alves, Cerski, Carlos Thadeu Schmidt, Álvares-da-Silva, Mário Reis, Schwartz, Ida Vanessa Doederlein
Publicado 2020

Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center()()

por Magalhães, Ana Paula Pereira Scholz de, Burin, Maira Graeff, Souza, Carolina Fischinger Moura de, de Bitencourt, Fernanda Hendges, Sebastião, Fernanda Medeiros, Silva, Thiago Oliveira, Vairo, Filippo Pinto e, Schwartz, Ida Vanessa Doederlein
Publicado 2019

Clinical and molecular correlates from a predominantly adult cohort of patients with short telomere lengths

por Mangaonkar, Abhishek A., Ferrer, Alejandro, Vairo, Filippo Pinto E., Hammel, Caleb W., Prochnow, Carri, Gangat, Naseema, Hogan, William J., Litzow, Mark R., Peters, Steve G., Scott, J. P., Utz, James P., Baqir, Misbah, Carmona-Porquera, Eva M., Kalra, Sanjay, Sekiguchi, Hiroshi, Khan, Shakila P., Simonetto, Douglas A., Klee, Eric W., Kamath, Patrick S., Roden, Anja C., Joshi, Avni Y., Kennedy, Cassie C., Wylam, Mark E., Patnaik, Mrinal M.
Publicado 2021