Mowat-Wilson Syndrome

by Carlos Eduardo Steiner
Published 2015-01-01

Christine Hackel (1955-2013)

by Carlos Eduardo Steiner, Denise Pontes Cavalcanti
Published 2014-01-01

Consanguinity and Geographic Origin of Patients With Autosomal Recessive Metabolic Disorders Evaluated in a Reference Service in Campinas, Brazil

by Cristiano Guimarães Kozuki, Carlos Eduardo Steiner MD, PhD
Published 2015-01-01

Cutis laxa with growth and developmental delay, wrinkly skin syndrome and gerodermia osteodysplastica: a report of two unrelated patients and a literature review

by Carlos Eduardo Steiner, Maria Letícia Cintra, Antonia Paula Marques-de-Faria
Published 2005-01-01

Laboratorial diagnosis of fragile-X syndrome: experience in a sample of individuals with pervasive developmental disorders Diagnóstico laboratorial da síndrome do cromossomo X frág...

by Carlos Eduardo Steiner, Marilisa Mantovani Guerreiro, Antonia Paula Marques-de-Faria, Iscia Lopes-Cendes
Published 2005-09-01

Genotype and natural history in unrelated individual with phenylketonuria and autistic behavior Genótipo e história natural em indivíduos não aparentados com fenilcetonúria e compo...

by Carlos Eduardo Steiner, Angelina Xavier Acosta, Marilisa Mantovani Guerreiro, Antonia Paula Marques-de-Faria
Published 2007-06-01

Deafness, palmoplantar hyperkeratosis, and knuckle pads with male-to-male transmission: Bart-Pumphrey syndrome

by Gisele Viana de Oliveira, Carlos Eduardo Steiner, Maria Letícia Cintra, Antonia Paula Marques-de-Faria
Published 2003-01-01

Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib

by Marcelo Paschoalete Carlin, Daniel Zanetti Scherrer, Adriana Maria Alves De Tommaso, Carmen Silvia Bertuzzo, Carlos Eduardo Steiner
Published 2013-01-01

Ocular findings in Brazilian identical twins with Cohen syndrome: case report Achados oftalmológicos em gêmeos idênticos brasileiros com síndrome de Cohen: relato de caso

by Priscila Hae Hyun Rim, Eugênio Santana de Figueirêdo, Fabio Endo Hirata, Carlos Eduardo Steiner, Antonia Paula Marques-de-Faria
Published 2009-12-01

Anthropometric and body-mass composition suggests an intrinsic feature in Williams-Beuren syndrome Antropometria e composição de massa corporal sugerem achado intrínseco da síndrom...

by Roberto José Negrão Nogueira, Leonardo Ferreira Zimmerman, Yara Maria Franco Moreno, Cláudia Regina Comparini, Danilo Vilela Viana, Tarsis Antonio Paiva Vieira, Carlos Eduardo Steiner, Vera Lúcia Gil-da-Silva-Lopes
Published 2011-12-01

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

Glycogen storage diseases: Twenty‐seven new variants in a cohort of 125 patients

by Fernanda Sperb-Ludwig, Franciele Cabral Pinheiro, Malu Bettio Soares, Tatiele Nalin, Erlane Marques Ribeiro, Carlos Eduardo Steiner, Eugênia Ribeiro Valadares, Gilda Porta, Carolina Fishinger Moura de Souza, Ida Vanessa Doederlein Schwartz
Published 2019-11-01

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

Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network

by Alícia Dorneles Dornelles, Louise Lapagesse de Camargo Pinto, Ana Carolina de Paula, Carlos Eduardo Steiner, Charles Marques Lourenço, Chong Ae Kim, Dafne Dain Gandelman Horovitz, Erlane Marques Ribeiro, Eugênia Ribeiro Valadares, Isabela Goulart, Isabel C. Neves de Souza, João Ivanildo da Costa Neri, Luiz Carlos Santana-da-Silva, Luiz Roberto Silva, Márcia Ribeiro, Ruy Pires de Oliveira Sobrinho, Roberto Giuglianiand, Ida Vanessa Doederlein Schwartz
Published 2014-01-01