Importance of Disease Recognition and Proper Disease Nomenclature for Patients With Acid Sphingomyelinase Deficiency (Historically Known as Niemann-Pick Types A or B) With a Diseas... von Ribes, Manuel, Muñoz-Rojas, Maria-Veronica

Volltext

The role of enzyme replacement therapy in severe Hunter syndrome—an expert panel consensus von Muenzer, Joseph, Bodamer, Olaf, Burton, Barbara, Clarke, Lorne, Frenking, Gudrun Schulze, Giugliani, Roberto, Jones, Simon, Rojas, Maria Verónica Muñoz, Scarpa, Maurizio, Beck, Michael, Harmatz, Paul

Volltext

ACE activity is modulated by the enzyme α-galactosidase A von Batista, Elice Carneiro, Carvalho, Luiz Roberto, Casarini, Dulce Elena, Carmona, Adriana Karaoglanovic, dos Santos, Edson Lucas, da Silva, Elton Dias, dos Santos, Robson Augusto, Nakaie, Clovis Ryuichi, Rojas, Maria Verônica Munoz, de Oliveira, Suzana Macedo, Bader, Michael, D’Almeida, Vânia, Martins, Ana Maria, de Picoly Souza, Kely, Pesquero, João Bosco

Volltext

New mutations in the GLA gene in Brazilian families with Fabry disease von Turaça, Lauro Thiago, Pessoa, Juliana Gilbert, Motta, Fabiana Louise, Muñoz Rojas, Maria Verônica, Müller, Karen Barbosa, Lourenço, Charles Marques, Junior Marques, Wilson, D'Almeida, Vania, Martins, Ana Maria, Pesquero, João Bosco

Volltext

Novel GAA mutations in patients with Pompe disease von Turaça, Lauro Thiago, de Faria, Douglas Oliveira Soares, Kyosen, Sandra Obikawa, Teixeira, Valber Dias, Motta, Fabiana Louise, Pessoa, Juliana Gilbert, Rodrigues e Silva, Marina, de Almeida, Sandro Soares, D'Almeida, Vânia, Munoz Rojas, Maria Verônica, Martins, Ana Maria, Pesquero, João Bosco

Volltext

Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression von Munoz‐Rojas, Maria‐Veronica, Vieira, Taiane, Costa, Ronaldo, Fagondes, Simone, John, Angela, Jardim, Laura Bannach, Vedolin, Leonardo M., Raymundo, Marcia, Dickson, Patricia I., Kakkis, Emil, Giugliani, Roberto

Volltext

Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment von Giugliani, Roberto, Federhen, Andressa, Rojas, Maria Verônica Muñoz, Vieira, Taiane, Artigalás, Osvaldo, Pinto, Louise Lapagesse, Azevedo, Ana Cecília, Acosta, Angelina, Bonfim, Carmen, Lourenço, Charles Marques, Kim, Chong Ae, Horovitz, Dafne, Bonfim, Denize, Norato, Denise, Marinho, Diane, Palhares, Durval, Santos, Emerson Santana, Ribeiro, Erlane, Valadares, Eugênia, Guarany, Fábio, de Lucca, Gisele Rosone, Pimentel, Helena, de Souza, Isabel Neves, Correa, Sr, Jordão, Fraga, José Carlos, Goes, José Eduardo, Cabral, José Maria, Simionato, José, Llerena, Jr, Juan, Jardim, Laura, Giuliani, Liane, da Silva, Luiz Carlos Santana, Santos, Mara L, Moreira, Maria Angela, Kerstenetzky, Marcelo, Ribeiro, Márcia, Ruas, Nicole, Barrios, Patricia, Aranda, Paulo, Honjo, Rachel, Boy, Raquel, Costa, Ronaldo, Souza, Carolina, Alcantara, Flavio F, Avilla, Silvio Gilberto A, Fagondes, Simone, Martins, Ana Maria

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

Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy von Jones, Simon A., McGovern, Margaret, Lidove, Olivier, Giugliani, Roberto, Mistry, Pramod K., Dionisi-Vici, Carlo, Munoz-Rojas, Maria-Veronica, Nalysnyk, Lubomyra, Schecter, Alison D., Wasserstein, Melissa

Volltext

Immune tolerance induction for laronidase treatment in mucopolysaccharidosis I von Giugliani, Roberto, Vieira, Taiane Alves, Carvalho, Clarissa Gutierrez, Muñoz-Rojas, Maria-Veronica, Semyachkina, Alla N., Voinova, Victoria Y., Richards, Susan, Cox, Gerald F., Xue, Yong

Volltext

Survival of patients with chronic acid sphingomyelinase deficiency (ASMD) in the United States: A retrospective chart review study von Pulikottil-Jacob, Ruth, Dehipawala, Sumudu, Smith, Brittany, Athavale, Amod, Gusto, Gaelle, Chandak, Aastha, Khachatryan, Artak, Banon, Tamar, Fournier, Marie, Guillonneau, Sophie, Pollissard, Laurence, Munoz-Rojas, Maria Veronica

Volltext

Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights von Martins, Ana Maria, Lindstrom, Kristin, Kyosen, Sandra Obikawa, Munoz-Rojas, Maria Veronica, Thibault, Nathan, Polgreen, Lynda E

Volltext

Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure von de Ru, Minke H, Teunissen, Quirine Ga, van der Lee, Johanna H, Beck, Michael, Bodamer, Olaf A, Clarke, Lorne A, Hollak, Carla E, Lin, Shuan-Pei, Rojas, Maria-Verónica Muñoz, Pastores, Gregory M, Raiman, Julian A, Scarpa, Maurizio, Treacy, Eileen P, Tylki-Szymanska, Anna, Wraith, J Edmond, Zeman, Jiri, Wijburg, Frits A

Volltext

The Brazilian Consensus on the Management of Pompe Disease von Llerena, Juan C., MD, PhD, Horovitz, Dafne Maria, MD, PhD, Nagahashi Marie, Suely Kazue, PhD, Porta, Gilda, MD, PhD, Giugliani, Roberto, MD, PhD, Muñoz Rojas, Maria Verónica, MD, Martins, Ana Maria, MD, PhD

Volltext

Awareness of MPS I among cardiologists von Munoz-Rojas, Maria Veronica, Pangaud, Nicolas, Valayannopoulos, Vassili

Volltext

Survival of patients with acid sphingomyelinase deficiency (ASMD) in the United States (US): A retrospective real-world study von Pulikottil-Jacob, Ruth, Munoz-Rojas, Maria Veronica, Gusto, Gaelle, Chandak, Aastha, Khachatryan, Artak, Banon, Tamar, Dehipawala, Sumudu, Smith, Brittany, Athavale, Amod, Fournier, Marie, Guillonneau, Sophie, Msihid, Jérôme, Pollissard, Laurence, Laredo, Fernando

Volltext

The MPS I Registry - 15 years of service to the community von Giugliani, Roberto, Clatterbuck, Cinde L., Guffon, Nathalie, Muenzer, Joseph, Munoz-Rojas, Maria Veronica, Viskochil, David H.

Volltext

Clinical manifestations and treatment of mucopolysaccharidosis type I patients in Latin America as compared with the rest of the world von Muñoz-Rojas, María Verónica, Bay, Luisa, Sanchez, Luz, van Kuijck, Marcel, Ospina, Sandra, Cabello, Juan Francisco, Martins, Ana Maria

Volltext

ACE activity is modulated by the enzyme [alpha]-galactosidase A von Batista, Elice Carneiro, Carvalho, Luiz Roberto, Casarini, Dulce Elena, Carmona, Adriana Karaoglanovic, Dos Santos, Edson Lucas, Da Silva, Elton Dias, Dos Santos, Robson Augusto, Nakaie, Clovis Ryuichi, Rojas, Maria Verônica, Munoz, de Oliveira, Suzana Macedo, Bader, Michael, D'almeida, Vânia, Martins, Ana Maria, de Picoly Souza, Kely, Pesquero, João Bosco

Volltext

Betagalsidase safety: Brazilian experience with patients under 16 years of age von Martins, Ana Maria, Aranda, Paulo, Biagini, Gilson, Derossi, Lidio, Rosa, Mariza, Munoz-Rojas, Maria Veronica

Volltext