Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity von Boyden, Eric D., Campos-Xavier, A. Belinda, Kalamajski, Sebastian, Cameron, Trevor L., Suarez, Philippe, Tanackovich, Goranka, Andria, Generoso, Ballhausen, Diana, Briggs, Michael D., Hartley, Claire, Cohn, Daniel H., Davidson, H. Rosemarie, Hall, Christine, Ikegawa, Shiro, Jouk, Pierre-Simon, König, Rainer, Megarbané, André, Nishimura, Gen, Lachman, Ralph S., Mortier, Geert, Rimoin, David L., Rogers, R. Curtis, Rossi, Massimiliano, Sawada, Hirotake, Scott, Richard, Unger, Sheila, Valadares, Eugenia Ribeiro, Bateman, John F., Warman, Matthew L., Superti-Furga, Andrea, Bonafé, Luisa

Volltext

Recommendations on Diagnosis, Treatment, and Monitoring for Gaucher Disease von Martins, Ana Maria, MD, PhD, Valadares, Eugenia Ribeiro, MD, PhD, Porta, Gilda, MD, PhD, Coelho, Janice, PhD, Filho, José Semionato, MD, Dudeque Pianovski, Mara Albonei, PhD, Kerstenetzky, Marcelo Soares, MD, de Fátima Pombo Montoril, Maria, MD, Aranda, Paulo Cesar, MD, Pires, Ricardo Flores, MD, Mota, Ronald Moura Vale, MD, Bortolheiro, Teresa Cristina, MD

Volltext

De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females von Li, Dong, Strong, Alanna, Shen, Kaitlyn M., Cassiman, David, Van Dyck, Maria, Linhares, Natalia Duarte, Valadares, Eugenia Ribeiro, Wang, Tiancheng, Pena, Sergio D.J., Jaeken, Jaak, Vergano, Samantha, Zackai, Elaine, Hing, Anne, Chow, Penny, Ganguly, Arupa, Scholz, Tasja, Bierhals, Tatjana, Philipp, Deindl, Hakonarson, Hakon, Bhoj, Elizabeth

Volltext

Autism and Down syndrome: early identification and diagnosis von Diniz, Natália Lisce Fioravante, Parlato-Oliveira, Erika, Pimenta, Priscila Gonçalves Ayres, Araújo, Liubiana Arantes de, Valadares, Eugênia Ribeiro

Volltext

Mother's sense of coherence and dental characteristics in children and adolescents with osteogenesis imperfecta: A paired study von Teixeira, Suélen Alves, Santos, Paula Carolina Mendes, Carneiro, Túlio Canella Bezerra, Paiva, Saul Martins, Valadares, Eugênia Ribeiro, Borges‐Oliveira, Ana Cristina

Volltext

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

Volltext

Guidelines for the Management of Mucopolysaccharidosis Type I von Martins, Ana Maria, MD, PhD, Dualibi, Ana Paula, MD, PhD, Norato, Denise, MD, PhD, Takata, Edna Tiemi, MD, Santos, Emerson S., MD, Valadares, Eugênia Ribeiro, MD, PhD, Porta, Gilda, MD, PhD, de Luca, Gisele, MD, Moreira, Gustavo, MD, PhD, Pimentel, Helena, MD, Coelho, Janice, PhD, Brum, Jaime Moritz, MD, PhD, Filho, José Semionato, MD, Kerstenetzky, Marcelo Soares, MD, Guimarães, Márcia R., MD, Muñoz Rojas, Maria Verónica, MD, Aranda, Paulo Cesar, MD, Pires, Ricardo Flores, MD, Faria, Rodrigo G.C., MD, Mota, Ronald Moura Vale, MD, Matte, Ursula, PhD, Guedes, Zelita Caldeira Ferreira, PhD

Volltext

Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity von Boyden, Eric D., Campos-Xavier, A. Belinda, Kalamajski, Sebastian, Cameron, Trevor L., Suarez, Philippe, Tanackovic, Goranka, Andria, Generoso, Ballhausen, Diana, Briggs, Michael D., Hartley, Claire, Cohn, Daniel H., Davidson, H. Rosemarie, Hall, Christine, Ikegawa, Shiro, Jouk, Pierre-Simon, König, Rainer, Megarbané, André, Nishimura, Gen, Lachman, Ralph S., Mortier, Geert, Rimoin, David L., Rogers, R. Curtis, Rossi, Massimiliano, Sawada, Hirotake, Scott, Richard, Unger, Sheila, Valadares, Eugenia Ribeiro, Bateman, John F., Warman, Matthew L., Superti-Furga, Andrea, Bonafé, Luisa

Volltext

Hereditary fructose intolerance in Brazilian patients von Valadares, Eugênia Ribeiro, Cruz, Ana Facury da, Adelino, Talita Emile Ribeiro, Kanufre, Viviane de Cássia, Ribeiro, Maria do Carmo, Penido, Maria Goretti Moreira Guimarães, Peret Filho, Luciano Amedee, Valadares, Laís Maria Santos Valadares e

Volltext

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

Volltext

Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil von Valadares, Eugênia Ribeiro, Pizarro, Mayara Xavier, Oliveira, Luiz Roberto, Amorim, Regina Helena Caldas de, Pinheiro, Tarcísio Márcio Magalhães, Grieben, Ulrike, Santos, Helena Hollanda, Queiroz, Rachel Rabelo, Lopes, Guilherme de Castro, Godard, Ana Lúcia Brunialti

Volltext

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta von Moosa, Shahida, Yamamoto, Guilherme L., Garbes, Lutz, Keupp, Katharina, Beleza-Meireles, Ana, Moreno, Carolina Araujo, Valadares, Eugenia Ribeiro, de Sousa, Sérgio B., Maia, Sofia, Saraiva, Jorge, Honjo, Rachel S., Kim, Chong Ae, Cabral de Menezes, Hamilton, Lausch, Ekkehart, Lorini, Pablo Villavicencio, Lamounier, Arsonval, Carniero, Tulio Canella Bezerra, Giunta, Cecilia, Rohrbach, Marianne, Janner, Marco, Semler, Oliver, Beleggia, Filippo, Li, Yun, Yigit, Gökhan, Reintjes, Nadine, Altmüller, Janine, Nürnberg, Peter, Cavalcanti, Denise P., Zabel, Bernhard, Warman, Matthew L., Bertola, Debora R., Wollnik, Bernd, Netzer, Christian

Volltext

Oral health of children and adolescents with mucopolysaccharidosis and mother's Sense of Coherence von Ruy Carneiro, Natália Cristina, Duda Deps, Tahyná, Campos França, Esdras, Ribeiro Valadares, Eugênia, Almeida Pordeus, Isabela, Borges‐Oliveira, Ana Cristina

Volltext

Neurofibromatoses: part 1 - diagnosis and differential diagnosis von Rodrigues, Luiz Oswaldo Carneiro, Batista, Pollyanna Barros, Goloni-Bertollo, Eny Maria, de Souza-Costa, Danielle, Eliam, Lucas, Eliam, Miguel, Cunha, Karin Soares Gonçalves, Darrigo-Junior, Luiz Guilherme, Ferraz-Filho, José Roberto Lopes, Geller, Mauro, Gianordoli-Nascimento, Ingrid F, Madeira, Luciana Gonçalves, Malloy-Diniz, Leandro Fernandes, Mendes, Hérika Martins, de Miranda, Débora Marques, Pavarino, Erika Cristina, Baptista-Pereira, Luciana, Rezende, Nilton A, Rodrigues, Luíza de Oliveira, da Silva, Carla Menezes, de Souza, Juliana Ferreira, de Souza, Márcio Leandro Ribeiro, Stangherlin, Aline, Valadares, Eugênia Ribeiro, Vidigal, Paula Vieira Teixeira

Volltext

De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females von Li, Dong, Strong, Alanna, Shen, Kaitlyn M, Cassiman, David, Van Dyck, Maria, Linhares, Natalia Duarte, Valadares, Eugenia Ribeiro, Wang, Tiancheng, Pena, Sergio D.J, Jaeken, Jaak, Vergano, Samantha, Zackai, Elaine, Hing, Anne, Chow, Penny, Ganguly, Arupa, Scholz, Tasja, Bierhals, Tatjana, Philipp, Deindl, Hakonarson, Hakon, Bhoj, Elizabeth

Volltext

Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter von Missaglia, Sara, Valadares, Eugenia Ribeiro, Moro, Laura, Faguntes, Eleonora Druve Tavares, Quintão Roque, Raquel, Giardina, Bruno, Tavian, Daniela

Volltext

Recommendations on Diagnosis, Treatment, and Monitoring for Gaucher Disease: Brazilian Guidelines to Diagnosis, Treatment, and Monitoring for Gaucher Disease, Fabry Disease, Mucopo... von MARTINS, Ana Maria, VALADARES, Eugenia Ribeiro, VALE MOTA, Ronald Moura, BORTOLHEIRO, Teresa Cristina, PORTA, Gilda, COELHO, Janice, SEMIONATO, José, DUDEQUE PIANOVSKI, Mara Albonei, SOARES KERSTENETZKY, Marcelo, DE FATIMA POMBO MONTORIL, Maria, CESAR ARANDA, Paulo, FLORES PIRES, Ricardo

Volltext

Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-... von Harmatz, Paul, Giugliani, Roberto, D. Schwartz, Ida Vanessa, Guffon, Nathalie, Teles, Elisa Leão, Miranda, M. Clara Sá, Wraith, J. Edmond, Beck, Michael, Arash, Laila, Scarpa, Maurizio, Ketteridge, David, Hopwood, John J., Plecko, Barbara, Steiner, Robert, Whitley, Chester B., Kaplan, Paige, Yu, Zi-Fan, Swiedler, Stuart J., Decker, Celeste

Volltext

Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy von Braunlin, E., Rosenfeld, H., Kampmann, C., Johnson, J., Beck, M., Giugliani, R., Guffon, N., Ketteridge, D., Sá Miranda, C. M., Scarpa, M., Schwartz, I. V., Leão Teles, E., Wraith, J. E., Barrios, P., Dias da Silva, E., Kurio, G., Richardson, M., Gildengorin, G., Hopwood, J. J., Imperiale, M., Schatz, A., Decker, C., Harmatz, P.

Volltext

Diagnóstico citogenético de pacientes com retardo mental idiopático von Linhares, Natália Duarte, Svartman, Marta, Valadares, Eugênia Ribeiro

Volltext