Oculocerebrorenal syndrome of Lowe: magnetic resonance imaging findings in the first six years of life Síndrome oculocerebrorrenal de Lowe: achados evolutivos de imagem de ressonân...

by Arnolfo de Carvalho-Neto, Sergio Eiji Ono, Georgina de Melo Cardoso, Mara Lucia Schmitz Ferreira Santos, Izabela Celidonio
Published 2009-06-01

Pediatric Anti-N-methyl-D-aspartate Receptor Encephalitis Mimicking Glutaric Aciduria Type 1: A Case Report

by Daniel Almeida do Valle, Daniel Almeida do Valle, Daniel Almeida do Valle, Mara Lúcia Schmitz Ferreira Santos, Mara Lúcia Schmitz Ferreira Santos, Michelle Silva Zeny, Michelle Silva Zeny, Michelle Silva Zeny, Mara L. Cordeiro, Mara L. Cordeiro, Mara L. Cordeiro
Published 2020-10-01

X-LINKED ADRENOLEUKODYSTROPHY IN BRAZIL: A CASE SERIES

by Fernanda Luiza Schumacher Furlan, Macleise Andres Lemes, Ligia Cecilia Fuverki Suguimatsu, Carolina Teixeira Furquim Pires, Mara Lucia Schmitz Ferreira Santos

Functional results after carpal tunnel release in mucopolysaccharidosis

by Giana Silveira Giostri, Camila Deneka Arantes Souza, Alencar Kenji Nagai, Mara Lucia Schmitz Ferreira Santos, José Silvany Pacheco Sampaio, Flavia David João de Masi Nassif
Published 2021-09-01

Clinical findings in Brazilian patients with adult GM1 gangliosidosis

by Luciana Giugliani, Carlos Eduardo Steiner, Chong Ae Kim, Charles Marques Lourenço, Mara Lucia Schmitz Ferreira Santos, Carolina Fischinger Moura deSouza, Ana Carolina Brusius‐Facchin, Guilherme Baldo, Mariluce Riegel, Roberto Giugliani
Published 2019-09-01

Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America

by Roberto Giugliani, Martha Luz Solano Villarreal, C. Araceli Arellano Valdez, Antonieta Mahfoud Hawilou, Norberto Guelbert, Luz Norela Correa Garzón, Ana Maria Martins, Angelina Acosta, Juan Francisco Cabello, Aída Lemes, Mara Lucia Schmitz Ferreira Santos, Hernán Amartino
Published 2014-06-01

Morquio‐like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1‐related phenotype

by Sylvia Stockler‐Ipsiroglu, Nahid Yazdanpanah, Mojgan Yazdanpanah, Marioara Moisa Popurs, Nataliya Yuskiv, Mara Lúcia Schmitz Ferreira Santos, Chong Ae Kim, Carolina Fischinger Moura de Souza, Charles Marques Lourenço, Carlos Eduardo Steiner, Andressa Federhen, Luciana Giugliani, Débora Maria Bastos Pereira, Luz Elena Durán‐Carabali, Roberto Giugliani
Published 2021-07-01

Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity

by Ana Vitoria Barban Margutti, Wilson Araújo Silva, Daniel Fantozzi Garcia, Greice Andreotti de Molfetta, Adriana Aparecida Marques, Tatiana Amorim, Vânia Mesquita Gadelha Prazeres, Raquel Tavares Boy da Silva, Irene Kazue Miura, João Seda Neto, Emerson de Santana Santos, Mara Lúcia Schmitz Ferreira Santos, Charles Marques Lourenço, Tássia Tonon, Fernanda Sperb-Ludwig, Carolina Fischinger Moura de Souza, Ida Vanessa Döederlein Schwartz, José Simon Camelo
Published 2020-11-01