Re: “Molecular analysis of 9 unrelated families presenting with juvenile and chronic GM1 gangliosidosis” von Steiner, Carlos Eduardo, Bonadia, Luciana Cardoso

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Mowat-Wilson syndrome von Steiner, Carlos Eduardo

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Sjogren-Larsson syndrome brain volumetric reductions demonstrated with an automated software von Castro, José Thiago de Souza de, Saab, Camilo Lotfi, Souto, Mariam Patrícia Auada, Ortolam, Juliane Giselle, Steiner, Carlos Eduardo, Rezende, Thiago Junqueira Ribeiro de, Reis, Fabiano

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Disease progression in Sanfilippo type B: Case series of Brazilian patients von Montenegro, Yorran Hardman Araújo, Kubaski, Francyne, Trapp, Franciele Barbosa, Riegel-Giugliani, Mariluce, Souza, Carolina Fischinger Moura de, Ribeiro, Erlane Marques, Lourenço, Charles Marques, Cardoso-Dos-Santos, Augusto César, Ribeiro, Márcia Gonçalves, Kim, Chong Ae, Castro, Matheus Augusto Araújo, Embiruçu, Emília Katiane, Steiner, Carlos Eduardo, Vairo, Filippo Pinto E, Baldo, Guilherme, Giugliani, Roberto, Poswar, Fabiano de Oliveira

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Glycogen storage diseases: Twenty‐seven new variants in a cohort of 125 patients von Sperb-Ludwig, Fernanda, Pinheiro, Franciele Cabral, Bettio Soares, Malu, Nalin, Tatiele, Ribeiro, Erlane Marques, Steiner, Carlos Eduardo, Ribeiro Valadares, Eugênia, Porta, Gilda, Fishinger Moura de Souza, Carolina, Schwartz, Ida Vanessa Doederlein

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Clinical findings in Brazilian patients with adult GM1 gangliosidosis von Giugliani, Luciana, Steiner, Carlos Eduardo, Kim, Chong Ae, Lourenço, Charles Marques, Santos, Mara Lucia Schmitz Ferreira, Souza, Carolina Fischinger Moura, Brusius‐Facchin, Ana Carolina, Baldo, Guilherme, Riegel, Mariluce, Giugliani, Roberto

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Morquio‐like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1‐related phenotype von Stockler‐Ipsiroglu, Sylvia, Yazdanpanah, Nahid, Yazdanpanah, Mojgan, Moisa Popurs, Marioara, Yuskiv, Nataliya, Schmitz Ferreira Santos, Mara Lúcia, Ae Kim, Chong, Fischinger Moura de Souza, Carolina, Marques Lourenço, Charles, Steiner, Carlos Eduardo, Federhen, Andressa, Giugliani, Luciana, Bastos Pereira, Débora Maria, Durán‐Carabali, Luz Elena, Giugliani, Roberto

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Consanguinity and Geographic Origin of Patients With Autosomal Recessive Metabolic Disorders Evaluated in a Reference Service in Campinas, Brazil von Kozuki, Cristiano Guimarães, Steiner, Carlos Eduardo

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Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network von Dornelles, Alícia Dorneles, de Camargo Pinto, Louise Lapagesse, de Paula, Ana Carolina, Steiner, Carlos Eduardo, Lourenço, Charles Marques, Kim, Chong Ae, Horovitz, Dafne Dain Gandelman, Ribeiro, Erlane Marques, Valadares, Eugênia Ribeiro, Goulart, Isabela, Neves de Souza, Isabel C, da Costa Neri, João Ivanildo, Santana-da-Silva, Luiz Carlos, Silva, Luiz Roberto, Ribeiro, Márcia, de Oliveira Sobrinho, Ruy Pires, Giugliani, Roberto, Schwartz, Ida Vanessa Doederlein

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Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib von Carlin, Marcelo Paschoalete, Scherrer, Daniel Zanetti, De Tommaso, Adriana Maria Alves, Bertuzzo, Carmen Silvia, Steiner, Carlos Eduardo

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Clinical Findings in a Series of Thirty Eight Patients with Williams-Beuren Syndrome von de Oliveira, Karina Montemor Klegen, Simões, Luiza de Oliveira, Dos Santos, Ana Mondadori, Steiner, Carlos Eduardo

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Microdeletion 3q13.2q21.2 in a Patient Previously Diagnosed with MOMO Syndrome von de Oliveira-Sobrinho, Ruy Pires, Vieira, Társis Paiva, Steiner, Carlos Eduardo

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Type II autosomal recessive cutis laxa: Report of another patient and molecular studies concerning three candidate genes von Scherrer, Daniel Zanetti, Alexandrino, Fabiana, Cintra, Maria Letícia, Sartorato, Edi Lúcia, Steiner, Carlos Eduardo

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Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing von de Marchi, Rafael, Nalin, Tatiele, Sperb-Ludwig, Fernanda, Pinheiro, Franciele Cabral, Schwartz, Ida Vanessa Doederlein, Steiner, Carlos Eduardo

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Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing von Tresbach, Rafael Hencke, Sperb-Ludwig, Fernanda, Ligabue-Braun, Rodrigo, Bitencourt, Fernanda Hendges de, Tonon, Tássia, Souza, Carolina Fischinger Moura de, Poswar, Fabiano de Oliveira, Leite, Maria Efigênia de Queiroz, Amorim, Tatiana, Porta, Gilda, Seda Neto, João, Miura, Irene Kazumi, Steiner, Carlos Eduardo, Martins, Ana Maria, Pessoa, André Luiz Santos, Ribeiro, Erlane Marques, Schwartz, Ida Vanessa Doederlein

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Brief Report: Acrocallosal Syndrome and Autism von Steiner, Carlos Eduardo, Guerreiro, Marilisa Mantovani, Marques-de-Faria, Antonia Paula

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Syndromic Retinitis Pigmentosa: A 15-Patient Study von Holanda, Ianne Pessoa, Rim, Priscila Hae Hyun, Rare Genomes Project Consortium, Guaragna, Mara Sanches, Gil-da-Silva-Lopes, Vera Lúcia, Steiner, Carlos Eduardo

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Low‐pass whole genome sequencing as a cost‐effective alternative to chromosomal microarray analysis for low‐ and middle‐income countries von Mazzonetto, Patricia C., Villela, Darine, Krepischi, Ana C. V., Pierry, Paulo M., Bonaldi, Adriano, Almeida, Luiz Gustavo D., Paula, Marcelo G., Bürger, Matheus Carvalho, Oliveira, Ana Gabriela, Fonseca, Gustavo G. G., Giugliani, Roberto, Riegel‐Giugliani, Mariluce, Bertola, Débora, Yamamoto, Guilherme Lopes, Passos‐Bueno, Maria Rita, Campos, Gabriele da Silva, Machado, Ana Claudia Dantas, Mazzeu, Juliana F., Perrone, Eduardo, Zechi‐Ceide, Roseli M., Kokitsu‐Nakata, Nancy M., Vieira, Társis Paiva, Steiner, Carlos Eduardo, Gil‐da‐Silva‐Lopes, Vera Lúcia, Vieira, Daniela Koeller Rodrigues, Boy, Raquel, Pina‐Neto, João Monteiro, Scapulatempo‐Neto, Cristovam, Milanezi, Fernanda, Rosenberg, Carla

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Re: “Molecular analysis of 9 unrelated families presenting with juvenile and chronic GM1 gangliosidosis” von Steiner, Carlos Eduardo, Bonadia, Luciana Cardoso

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Microdeletion 1p32p31 Presenting with Moyamoya Disease and Incomplete Hippocampal Inversion von Pires de Oliveira-Sobrinho, Ruy, Bispo, Luciana Mota, Heleno, Julia Lôndero, Rojas Ayala, Fernanda Rocha, Reis, Fabiano, Vieira, Társis Paiva, Steiner, Carlos Eduardo

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